Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Oncology Letters
      • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Biomedical Reports
      • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • Information for Authors
    • Information for Reviewers
    • Information for Librarians
    • Information for Advertisers
    • Conferences
  • Language Editing
Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • For Authors
    • For Reviewers
    • For Librarians
    • For Advertisers
    • Conferences
  • Language Editing
Login Register Submit
  • This site uses cookies
  • You can change your cookie settings at any time by following the instructions in our Cookie Policy. To find out more, you may read our Privacy Policy.

    I agree
Search articles by DOI, keyword, author or affiliation
Search
Advanced Search
presentation
International Journal of Molecular Medicine
Join Editorial Board Propose a Special Issue
Print ISSN: 1107-3756 Online ISSN: 1791-244X
Journal Cover
June-2018 Volume 41 Issue 6

Full Size Image

Sign up for eToc alerts
Recommend to Library

Journals

International Journal of Molecular Medicine

International Journal of Molecular Medicine

International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease.

International Journal of Oncology

International Journal of Oncology

International Journal of Oncology is an international journal devoted to oncology research and cancer treatment.

Molecular Medicine Reports

Molecular Medicine Reports

Covers molecular medicine topics such as pharmacology, pathology, genetics, neuroscience, infectious diseases, molecular cardiology, and molecular surgery.

Oncology Reports

Oncology Reports

Oncology Reports is an international journal devoted to fundamental and applied research in Oncology.

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

Oncology Letters

Oncology Letters

Oncology Letters is an international journal devoted to Experimental and Clinical Oncology.

Biomedical Reports

Biomedical Reports

Explores a wide range of biological and medical fields, including pharmacology, genetics, microbiology, neuroscience, and molecular cardiology.

Molecular and Clinical Oncology

Molecular and Clinical Oncology

International journal addressing all aspects of oncology research, from tumorigenesis and oncogenes to chemotherapy and metastasis.

World Academy of Sciences Journal

World Academy of Sciences Journal

Multidisciplinary open-access journal spanning biochemistry, genetics, neuroscience, environmental health, and synthetic biology.

International Journal of Functional Nutrition

International Journal of Functional Nutrition

Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through functional nutrition.

International Journal of Epigenetics

International Journal of Epigenetics

Publishes open-access research on using epigenetics to advance understanding and treatment of human disease.

Medicine International

Medicine International

An International Open Access Journal Devoted to General Medicine.

Journal Cover
June-2018 Volume 41 Issue 6

Full Size Image

Sign up for eToc alerts
Recommend to Library

  • Article
  • Citations
    • Cite This Article
    • Download Citation
    • Create Citation Alert
    • Remove Citation Alert
    • Cited By
  • Similar Articles
    • Related Articles (in Spandidos Publications)
    • Similar Articles (Google Scholar)
    • Similar Articles (PubMed)
  • Download PDF
  • Download XML
  • View XML
Article

Novel mutations of the SERPINF1 and FKBP10 genes in Chinese families with autosomal recessive osteogenesis imperfecta

  • Authors:
    • Hao Zhang
    • Yang Xu
    • Hua Yue
    • Chun Wang
    • Jiemei Gu
    • Jinwei He
    • Wenzhen Fu
    • Weiwei Hu
    • Zhenlin Zhang
  • View Affiliations / Copyright

    Affiliations: Department of Osteoporosis and Bone Diseases, Metabolic Bone Diseases and Genetic Research, Shanghai Key Clinical Centre for Metabolic Diseases, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, P.R. China
  • Pages: 3662-3670
    |
    Published online on: March 7, 2018
       https://doi.org/10.3892/ijmm.2018.3542
  • Expand metrics +
Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )
Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )
Cited By (CrossRef): 0 citations Loading Articles...

This article is mentioned in:



Abstract

The aim of the present study was to characterize the clinical manifestations and identify the mutations of Serpin family F member 1 (SERPINF1) and FK506 binding protein 10 (FKBP10) genes in Chinese patients with osteogenesis imperfecta (OI). Using whole‑exome sequencing in the first and third probands, a novel mutation was identified in SERPINF1 and a novel compound heterozygous mutation was revealed in FKBP10. Using Sanger sequencing, an additional novel mutation in SERPINF1 was identified in a proband of family 2. In family 1, the proband presented with a novel homozygous missense mutation of the SERPINF1 gene, c.1067T>A (V356E). In family 2, the proband had a novel homozygous deletion mutation of the SERPINF1 gene, c.283+473_643+104del (p.Ala96_Gly215del). Serum pigment‑epithelium‑derived factor concentration was not detected in probands with OI type VI. For both families, the proband's father was demonstrated to have a heterozygous mutation of SERPINF1, whereas no mutations was detected in the probands' mothers. An assessment of allelic copy numbers revealed a deletion of SERPINF1 in the mother of family 1. The results of the present study demonstrate that patients may have mild symptoms of OI with a large fragment deletion in the SERPINF1 gene. Thus, the phenotype of Chinese patients with type VI OI is milder than that of Caucasian and Korean patients. In family 3, the proband displayed a novel compound heterozygous mutation in FKBP10, c.813_814delGA (p.Glu271AspfsX101) and c.831delC (p.Gly278AlafsX20), and did not have Bruck syndrome. Codon 831 of the FKBP10 gene may represent a mutation hotspot for human OI. These results extend both the phenotypic and the genotypic contents of OI patients with SERPINF1 or FKBP10 mutations.
View Figures

Figure 1

Figure 2

Figure 3

Figure 4

Figure 5

View References

1 

Rauch F and Glorieux FH: Osteogenesis imperfecta. Lancet. 363:1377–1385. 2004. View Article : Google Scholar

2 

Sillence DO and Rimoin DL: Classification of osteogenesis imperfect. Lancet. 1:1041–1042. 1978. View Article : Google Scholar : PubMed/NCBI

3 

Cheung MS and Glorieux FH: Osteogenesis imperfecta: Update on presentation and management. Rev Endoc Metab Disord. 9:153–160. 2008. View Article : Google Scholar

4 

Glorieux FH, Rauch F, Plotkin H, Ward L, Travers R, Roughley P, Lalic L, Glorieux DF, Fassier F and Bishop NJ: Type V osteogenesis imperfecta: A new form of brittle bone disease. J Bone Miner Res. 15:1650–1658. 2000. View Article : Google Scholar : PubMed/NCBI

5 

Glorieux FH, Ward LM, Rauch F, Lalic L, Roughley PJ and Travers R: Osteogenesis imperfecta type VI: A form of brittle bone disease with a mineralization defect. J Bone Miner Res. 17:30–38. 2002. View Article : Google Scholar : PubMed/NCBI

6 

Tucker T, Nelson T, Sirrs S, Roughley P, Glorieux FH, Moffatt P, Schlade-Bartusiak K, Brown L and Rauch F: A co-occurrence of osteogenesis imperfecta type VI and cystinosis. Am J Med Genet A. 158A. pp. 1422–1426. 2012, View Article : Google Scholar

7 

Becker J, Semler O, Gilissen C, Li Y, Bolz HJ, Giunta C, Bergmann C, Rohrbach M, Koerber F, Zimmermann K, et al: Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta. Am J Hum Genet. 88:362–371. 2011. View Article : Google Scholar : PubMed/NCBI

8 

Alanay Y, Avaygan H, Camacho N, Utine GE, Boduroglu K, Aktas D, Alikasifoglu M, Tuncbilek E, Orhan D, Bakar FT, et al: Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet. 86:551–559. 2010. View Article : Google Scholar : PubMed/NCBI

9 

Kelley BP, Malfait F, Bonafe L, Baldridge D, Homan E, Symoens S, Willaert A, Elcioglu N, Van Maldergem L, Verellen-Dumoulin C, et al: Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. J Bone Miner Res. 26:666–672. 2011. View Article : Google Scholar

10 

Valadares ER, Carneiro TB, Santos PM, Oliveira AC and Zabel B: What is new in genetics and osteogenesis imperfecta classification? J Pediatr. 90:536–541. 2014. View Article : Google Scholar

11 

Zhang ZL, Zhang H, Ke YH, Yue H, Xiao WJ, Yu JB, Gu JM, Hu WW, Wang C, He JW and Fu WZ: The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta. J Bone Miner Metab. 30:69–77. 2012. View Article : Google Scholar

12 

Zhang H, Yue H, Wang C, Hu W, Gu J, He J, Fu W, Hu Y, Li M and Zhang Z: Clinical characteristics and the identification of novel mutations of COL1A1 and COL1A2 in 61 Chinese patients with osteogenesis imperfecta. Mol Med Rep. 14:4918–4926. 2016. View Article : Google Scholar : PubMed/NCBI

13 

Wang JY, Liu Y, Song LJ, Lv F, Xu XJ, San A, Wang J, Yang HM, Yang ZY, Jiang Y, et al: Novel mutations in SERPINF1 result in rare osteogenesis imperfecta type VI. Calcif Tissue Int. 100:55–66. 2017. View Article : Google Scholar

14 

Zhou P, Liu Y, Lv F, Nie M, Jiang Y, Wang O, Xia W, Xing X and Li M: Novel mutations in FKBP10 and PLOD2 cause rare Bruck syndrome in Chinese patients. PloS One. 9:e1075942014. View Article : Google Scholar : PubMed/NCBI

15 

Zhang H, He JW, Gao G, Yue H, Yu JB, Hu WW, Gu JM, Hu YQ, Li M, Fu WZ, et al: Polymorphisms in the HOXD4 gene are not associated with peak bone mineral density in Chinese nuclear families. Acta Pharmacol Sin. 31:977–983. 2010. View Article : Google Scholar : PubMed/NCBI

16 

Maynard LM, Guo SS, Chumlea WC, Roche AF, Wisemandle WA, Zeller CM, Towne B and Siervogel RM: Total-body and regional bone mineral content and areal bone mineral density in children aged 8-18 y: The Fels Longitudinal study. Am J Clin Nutr. 68:1111–1117. 1998. View Article : Google Scholar : PubMed/NCBI

17 

Lu HK, Zhang Z, Ke YH, He JW, Fu WZ, Zhang CQ and Zhang ZL: High prevalence of vitamin D insufficiency in China: Relationship with the levels of parathyroid hormone and markers of bone turnover. PloS One. 7:e472642012. View Article : Google Scholar : PubMed/NCBI

18 

Li R, Li Y, Kristiansen K and Wang J: SOAP: Short oligonucleotide alignment program. Bioinformatics. 24:713–714. 2008. View Article : Google Scholar : PubMed/NCBI

19 

Zhang Z, Xia W, He J, Zhang Z, Ke Y, Yue H, Wang C, Zhang H, Gu J, Hu W, et al: Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathy. Am J Hum Genet. 90:125–132. 2012. View Article : Google Scholar :

20 

Li Y, Vinckenbosch N, Tian G, Huerta-Sanchez E, Jiang T, Jiang H, Albrechtsen A, Andersen G, Cao H, Korneliussen T, et al: Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants. Nat Genet. 42:969–972. 2010. View Article : Google Scholar : PubMed/NCBI

21 

DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C, Philippakis AA, del Angel G, Rivas MA, Hanna M, et al: A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet. 43:491–498. 2011. View Article : Google Scholar : PubMed/NCBI

22 

Wang K, Li M and Hakonarson H: ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 38:e1642010. View Article : Google Scholar : PubMed/NCBI

23 

Shi Y, Li Y, Zhang D, Zhang H, Li Y, Lu F, Liu X, He F, Gong B, Cai L, et al: Exome sequencing identifies ZNF644 mutations in high myopia. PLoS Genet. 7:e10020842011. View Article : Google Scholar : PubMed/NCBI

24 

Livak KJ and Schmittgen TD: Analysis of relative gene expression data using real-time quantitative PCR and the 2−ΔΔCT method. Methods. 25:402–408. 2001. View Article : Google Scholar

25 

Morello R, Bertin TK, Chen Y, Hicks J, Tonachini L, Monticone M, Castagnola P, Rauch F, Glorieux FH, Vranka J, et al: CRTAP is required for prolyl 3-hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell. 127:291–304. 2006. View Article : Google Scholar : PubMed/NCBI

26 

Barnes AM, Chang W, Morello R, Cabral WA, Weis M, Eyre DR, Leikin S, Makareeva E, Kuznetsova N, Uveges TE, et al: Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta. N Engl J Med. 355:2757–2764. 2006. View Article : Google Scholar : PubMed/NCBI

27 

Willaert A, Malfait F, Symoens S, Gevaert K, Kayserili H, Megarbane A, Mortier G, Leroy JG, Coucke PJ and De Paepe A: Recessive osteogenesis imperfecta caused by LEPRE1 mutations: Clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation. J Med Genet. 46:233–241. 2009. View Article : Google Scholar

28 

van Dijk FS, Nesbitt IM, Zwikstra EH, Nikkels PG, Piersma SR, Fratantoni SA, Jimenez CR, Huizer M, Morsman AC, Cobben JM, et al: PPIB mutations cause severe osteogenesis imperfecta. Am J Hum Genet. 85:521–527. 2009. View Article : Google Scholar : PubMed/NCBI

29 

Christiansen HE, Schwarze U, Pyott SM, AlSwaid A, Al Balwi M, Alrasheed S, Pepin MG, Weis MA, Eyre DR and Byers PH: Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta. Am J Hum Genet. 86:389–398. 2010. View Article : Google Scholar : PubMed/NCBI

30 

Lapunzina P, Aglan M, Temtamy S, Caparrós-Martín JA, Valencia M, Letón R, Martínez-Glez V, Elhossini R, Amr K, Vilaboa N and Ruiz-Perez VL: Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta. Am J Hum Genet. 87:110–114. 2010. View Article : Google Scholar : PubMed/NCBI

31 

Li F, Song N, Tombran-Tink J and Niyibizi C: Pigment epithelium derived factor suppresses expression of Sost/Sclerostin by osteocytes: Implication for its role in bone matrix mineralization. J Cell Physiol. 230:1243–1249. 2015. View Article : Google Scholar

32 

Homan EP, Rauch F, Grafe I, Lietman C, Doll JA, Dawson B, Bertin T, Napierala D, Morello R, Gibbs R, et al: Mutations in SERPINF1 cause osteogenesis imperfecta type VI. J Bone Miner Res. 26:2798–2803. 2011. View Article : Google Scholar : PubMed/NCBI

33 

Venturi G, Gandini A, Monti E, Dalle Carbonare L, Corradi M, Vincenzi M, Valenti MT, Valli M, Pelilli E, Boner A, et al: Lack of expression of SERPINF1, the gene coding for pigment epithelium-derived factor, causes progressively deforming osteogenesis imperfecta with normal type I collagen. J Bone Miner Res. 27:723–728. 2012. View Article : Google Scholar

34 

Caparrós-Martin JA, Valencia M, Pulido V, Martínez-Glez V, Rueda-Arenas I, Amr K, Farra C, Lapunzina P, Ruiz-Perez VL, Temtamy S and Aglan M: Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations. Am J Med Genet A. 161A:1354–1369. 2013. View Article : Google Scholar : PubMed/NCBI

35 

Cho SY, Ki CS, Sohn YB, Kim SJ, Maeng SH and Jin DK: Osteogenesis imperfecta Type VI with severe bony deformities caused by novel compound heterozygous mutations in SERPINF1. J Korean Med Sci. 28:1107–1110. 2013. View Article : Google Scholar : PubMed/NCBI

36 

Rauch F, Husseini A, Roughley P, Glorieux FH and Moffatt P: Lack of circulating pigment epithelium-derived factor is a marker of osteogenesis imperfecta type VI. J Clin Endocrinol Metab. 97:E1550–E1556. 2012. View Article : Google Scholar : PubMed/NCBI

37 

Steinlein OK, Aichinger E, Trucks H and Sander T: Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta. BMC Med Genet. 12:1522011. View Article : Google Scholar : PubMed/NCBI

38 

Shaheen R, Al-Owain M, Sakati N, Alzayed ZS and Alkuraya FS: FKBP10 and Bruck syndrome: Phenotypic heterogeneity or call for reclassification? Am J Hum Genet. 87:306–307; author reply 308. 2010. View Article : Google Scholar : PubMed/NCBI

39 

Schwarze U, Cundy T, Pyott SM, Christiansen HE, Hegde MR, Bank RA, Pals G, Ankala A, Conneely K, Seaver L, et al: Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen. Hum Mol Genet. 22:1–17. 2013. View Article : Google Scholar :

Related Articles

  • Abstract
  • View
  • Download
  • Twitter
Copy and paste a formatted citation
Spandidos Publications style
Zhang H, Xu Y, Yue H, Wang C, Gu J, He J, Fu W, Hu W and Zhang Z: Novel mutations of the SERPINF1 and FKBP10 genes in Chinese families with autosomal recessive osteogenesis imperfecta. Int J Mol Med 41: 3662-3670, 2018.
APA
Zhang, H., Xu, Y., Yue, H., Wang, C., Gu, J., He, J. ... Zhang, Z. (2018). Novel mutations of the SERPINF1 and FKBP10 genes in Chinese families with autosomal recessive osteogenesis imperfecta. International Journal of Molecular Medicine, 41, 3662-3670. https://doi.org/10.3892/ijmm.2018.3542
MLA
Zhang, H., Xu, Y., Yue, H., Wang, C., Gu, J., He, J., Fu, W., Hu, W., Zhang, Z."Novel mutations of the SERPINF1 and FKBP10 genes in Chinese families with autosomal recessive osteogenesis imperfecta". International Journal of Molecular Medicine 41.6 (2018): 3662-3670.
Chicago
Zhang, H., Xu, Y., Yue, H., Wang, C., Gu, J., He, J., Fu, W., Hu, W., Zhang, Z."Novel mutations of the SERPINF1 and FKBP10 genes in Chinese families with autosomal recessive osteogenesis imperfecta". International Journal of Molecular Medicine 41, no. 6 (2018): 3662-3670. https://doi.org/10.3892/ijmm.2018.3542
Copy and paste a formatted citation
x
Spandidos Publications style
Zhang H, Xu Y, Yue H, Wang C, Gu J, He J, Fu W, Hu W and Zhang Z: Novel mutations of the SERPINF1 and FKBP10 genes in Chinese families with autosomal recessive osteogenesis imperfecta. Int J Mol Med 41: 3662-3670, 2018.
APA
Zhang, H., Xu, Y., Yue, H., Wang, C., Gu, J., He, J. ... Zhang, Z. (2018). Novel mutations of the SERPINF1 and FKBP10 genes in Chinese families with autosomal recessive osteogenesis imperfecta. International Journal of Molecular Medicine, 41, 3662-3670. https://doi.org/10.3892/ijmm.2018.3542
MLA
Zhang, H., Xu, Y., Yue, H., Wang, C., Gu, J., He, J., Fu, W., Hu, W., Zhang, Z."Novel mutations of the SERPINF1 and FKBP10 genes in Chinese families with autosomal recessive osteogenesis imperfecta". International Journal of Molecular Medicine 41.6 (2018): 3662-3670.
Chicago
Zhang, H., Xu, Y., Yue, H., Wang, C., Gu, J., He, J., Fu, W., Hu, W., Zhang, Z."Novel mutations of the SERPINF1 and FKBP10 genes in Chinese families with autosomal recessive osteogenesis imperfecta". International Journal of Molecular Medicine 41, no. 6 (2018): 3662-3670. https://doi.org/10.3892/ijmm.2018.3542
Follow us
  • Twitter
  • LinkedIn
  • Facebook
About
  • Spandidos Publications
  • Careers
  • Cookie Policy
  • Privacy Policy
How can we help?
  • Help
  • Live Chat
  • Contact
  • Email to our Support Team