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
Experimental and Therapeutic Medicine
Join Editorial Board Propose a Special Issue
Print ISSN: 1792-0981 Online ISSN: 1792-1015
Journal Cover
October-2019 Volume 18 Issue 4

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
October-2019 Volume 18 Issue 4

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 associated with autosomal‑dominant congenital cataract identified in Chinese families

  • Authors:
    • Zhenyu Wang
    • Chen Huang
    • Yanxiu Sun
    • Huibin Lv
    • Mingzhou Zhang
    • Xuemin Li
  • View Affiliations / Copyright

    Affiliations: Department of Ophthalmology, Peking University Third Hospital, Beijing 100191, P.R. China
  • Pages: 2701-2710
    |
    Published online on: August 8, 2019
       https://doi.org/10.3892/etm.2019.7865
  • 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

As the leading cause of impaired vision, congenital cataracts, particularly autosomal dominant congenital cataract (ADCC), have been considered as a hereditary disease. The present study aimed to identify genetic defects in Chinese pedigrees with ADCC. A total of 6 Chinese families with ADCC were included, comprising 103 members and 27 patients assessed in total. Genomic DNA samples were extracted from the peripheral blood of probands; mutations were determined using a specific eye disease enrichment panel with next‑generation sequencing. Following pathogenicity prediction, sites with notable pathogenicity were screened for further validation. Sanger sequencing was performed in the remaining individuals of the families and 100 normal controls. The pathogenic effects of the mutations, including amino acid substitutions, as well as structural and functional alterations of proteins linked to ADCC, were investigated via bioinformatics analysis. A total of seven mutations in six candidate genes associated with ADCC were identified in the 6 families: Myosin heavy chain 9 (MYH9) c.4150G>C, β‑crystallin A4 (CRYBA4) c.169T>C, RPGR‑interacting protein 1 (RPGRRIP1) c.2669G>A, wolframin (WFS1) c.1235T>C, CRYBA4 c.26C>T, Ephrin receptor subfamily 2 (EPHA2) c.2663+1G>A and paired box 6 (PAX6) c.11‑2A>G. The seven mutations were only detected in affected individuals. Among them, there were three novel mutations (MYH9: c.4150G>C; CRYBA4: c.169T>C; RPGRRIP1: c.2669G>A) and four previously reported ones. Mutations in RPGRIP1 (c.2669G>A) and CRYBA4 (c.26C>T) were predicted to be benign according to bioinformatics analysis. Conversely, other mutations in EPHA2, PAX6, MYH9, CRYBA4 (c.169T>C) and WFS1 were determined to be pathogenic. The present study reported two novel heterozygous mutations (MYH9 c.4150G>C and CRYBA4 c.169T>C) identified by analyzing 6 Chinese families with ADCC, supporting their important roles in the development of the disease.
View Figures

Figure 1

Figure 2

Figure 3

Figure 4

Figure 5

View References

1 

Hejtmancik JF: Congenital cataracts and their molecular genetics. Semin Cell Dev Biol. 19:134–149. 2008. View Article : Google Scholar : PubMed/NCBI

2 

Robinson GC, Jan JE and Kinnis C: Congenital ocular blindness in children, 1945 to 1984. Am J Dis Child. 141:1321–1324. 1987.PubMed/NCBI

3 

Shiels A and Hejtmancik JF: Genetic origins of cataract. Arch Ophthalmol. 125:165–173. 2007. View Article : Google Scholar : PubMed/NCBI

4 

Huang B and He W: Molecular characteristics of inherited congenital cataracts. Eur J Med Genet. 53:347–357. 2010. View Article : Google Scholar : PubMed/NCBI

5 

Francis PJ, Berry V, Bhattacharya SS and Moore AT: The genetics of childhood cataract. J Med Genet. 37:481–488. 2000. View Article : Google Scholar : PubMed/NCBI

6 

Apple DJ, Ram J, Foster A and Peng Q: Elimination of cataract blindness: A global perspective entering the new millenium. Surv Ophthalmol. 45 (Suppl 1):S1–S196. 2000.PubMed/NCBI

7 

Santana A and Waiswo M: The genetic and molecular basis of congenital cataract. Arq Bras Oftalmol. 74:136–142. 2011. View Article : Google Scholar : PubMed/NCBI

8 

Gill D, Klose R, Munier FL, McFadden M, Priston M, Billingsley G, Ducrey N, Schorderet DF and Héon E: Genetic heterogeneity of the Coppock-like cataract: A mutation in CRYBB2 on chromosome 22q11.2. Invest Ophthalmol Vis Sci. 41:159–165. 2000.PubMed/NCBI

9 

Liu Q, Wang KJ and Zhu SQ: A novel p.G112E mutation in BFSP2 associated with autosomal dominant pulverulent cataract with sutural opacities. Curr Eye Res. 39:1013–1019. 2014. View Article : Google Scholar : PubMed/NCBI

10 

Kunishima S, Kojima T, Matsushita T, Tanaka T, Tsurusawa M, Furukawa Y, Nakamura Y, Okamura T, Amemiya N, Nakayama T, et al: Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome). Blood. 97:1147–1149. 2001. View Article : Google Scholar : PubMed/NCBI

11 

Choi Y and Chan AP: PROVEAN web server: A tool to predict the functional effect of amino acid substitutions and indels. Bioinformatics. 31:2745–2747. 2015. View Article : Google Scholar : PubMed/NCBI

12 

Sim NL, Kumar P, Hu J, Henikoff S, Schneider G and Ng PC: SIFT web server: Predicting effects of amino acid substitutions on proteins. Nucleic Acids Res. 40:W452–W457. 2012. View Article : Google Scholar : PubMed/NCBI

13 

Schwarz JM, Rödelsperger C, Schuelke M and Seelow D: MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods. 7:575–576. 2010. View Article : Google Scholar : PubMed/NCBI

14 

Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS and Sunyaev SR: A method and server for predicting damaging missense mutations. Nat Methods. 7:248–249. 2010. View Article : Google Scholar : PubMed/NCBI

15 

Waterhouse A, Bertoni M, Bienert S, Studer G, Tauriello G, Gumienny R, Heer FT, de Beer TAP, Rempfer C, Bordoli L, et al: SWISS-MODEL: Homology modelling of protein structures and complexes. Nucleic Acids Res. 46:W296–W303. 2018. View Article : Google Scholar : PubMed/NCBI

16 

Choi BY, Park G, Gim J, Kim AR, Kim BJ, Kim HS, Park JH, Park T, Oh SH, Han KH and Park WY: Diagnostic application of targeted resequencing for familial nonsyndromic hearing loss. PLoS One. 8:e686922013. View Article : Google Scholar : PubMed/NCBI

17 

Sun W, Xiao X, Li S, Guo X and Zhang Q: Exome sequencing of 18 Chinese families with congenital cataracts: A new sight of the NHS gene. PLoS One. 9:e1004552014. View Article : Google Scholar : PubMed/NCBI

18 

Zhai Y, Li J, Yu W, Zhu S, Yu Y, Wu M, Sun G, Gong X and Yao K: Targeted exome sequencing of congenital cataracts related genes: Broadening the mutation spectrum and genotype-phenotype correlations in 27 Chinese Han families. Sci Rep. 7:12192017. View Article : Google Scholar : PubMed/NCBI

19 

Bu J, He S, Wang L, Li J, Liu J and Zhang X: A novel splice donor site mutation in EPHA2 caused congenital cataract in a Chinese family. Indian J Ophthalmol. 64:364–368. 2016. View Article : Google Scholar : PubMed/NCBI

20 

Churchill AJ, Hanson IM and Markham AF: Prenatal diagnosis of aniridia. Ophthalmology. 107:1153–1156. 2000. View Article : Google Scholar : PubMed/NCBI

21 

Shiels A and Hejtmancik JF: Mutations and mechanisms in congenital and age-related cataracts. Exp Eye Res. 156:95–102. 2017. View Article : Google Scholar : PubMed/NCBI

22 

Graw J: Genetics of crystallins: Cataract and beyond. Exp Eye Res. 88:173–189. 2009. View Article : Google Scholar : PubMed/NCBI

23 

Aoki T, Kunishima S, Yamashita Y, Minamitani K and Ota S: Macrothrombocytopenia with congenital bilateral cataracts: A phenotype of MYH9 disorder with Exon 24 indel mutations. J Pediatr Hematol Oncol. 40:76–78. 2018.PubMed/NCBI

24 

Seri M, Pecci A, Di Bari F, Cusano R, Savino M, Panza E, Nigro A, Noris P, Gangarossa S, Rocca B, et al: MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness. Medicine (Baltimore). 82:203–215. 2003. View Article : Google Scholar : PubMed/NCBI

25 

Miyazaki K, Kunishima S, Fujii W and Higashihara M: Identification of three in-frame deletion mutations in MYH9 disorders suggesting an important hot spot for small rearrangements in MYH9 exon 24. Eur J Haematol. 83:230–234. 2009. View Article : Google Scholar : PubMed/NCBI

26 

Saposnik B, Binard S, Fenneteau O, Nurden A, Nurden P, Hurtaud-Roux MF and Schlegel N; FrenchMYH9 networka, : Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-Related Disorders. Mol Genet Genomic Med. 2:297–312. 2014. View Article : Google Scholar : PubMed/NCBI

27 

De Rocco D, Pujol-Moix N, Pecci A, Faletra F, Bozzi V, Balduini CL and Savoia A: Identification of the first duplication in MYH9-related disease: A hot spot for unequal crossing-over within exon 24 of the MYH9 gene. Eur J Med Genet. 52:191–194. 2009. View Article : Google Scholar : PubMed/NCBI

28 

Wasano K, Matsunaga T, Ogawa K and Kunishima S: Late onset and high-frequency dominant hearing loss in a family with MYH9 disorder. Eur Arch Otorhinolaryngol. 273:3547–3552. 2016. View Article : Google Scholar : PubMed/NCBI

29 

Zetterberg E, Carlsson Alle MS, Najm J and Greinacher A: Thrombin generation in two families with MYH9-related platelet disorder. Platelets. 27:264–267. 2016. View Article : Google Scholar : PubMed/NCBI

30 

Okano S, Takase M, Iseki K, Toriumi N, Kaneda M and Kunishima S: Genotype-phenotype correlation of the p.R1165C mutation in the MYH9 disorder: Report of a Japanese pedigree. J Pediatr Hematol Oncol. 37:e352–e355. 2015. View Article : Google Scholar : PubMed/NCBI

31 

De Rocco D, Zieger B, Platokouki H, Heller PG, Pastore A, Bottega R, Noris P, Barozzi S, Glembotsky AC, Pergantou H, et al: MYH9-related disease: Five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations. Eur J Med Genet. 56:7–12. 2013. View Article : Google Scholar : PubMed/NCBI

32 

Vettore S, De Rocco D, Gerber B, Scandellari R, Bianco AM, Balduini CL, Pecci A, Fabris F and Savoia A: A G to C transversion at the last nucleotide of exon 25 of the MYH9 gene results in a missense mutation rather than in a splicing defect. Eur J Med Genet. 53:256–260. 2010. View Article : Google Scholar : PubMed/NCBI

33 

Pecci A, Panza E, De Rocco D, Pujol-Moix N, Girotto G, Podda L, Paparo C, Bozzi V, Pastore A, Balduini CL, et al: MYH9 related disease: Four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype. Eur J Haematol. 84:291–297. 2010. View Article : Google Scholar : PubMed/NCBI

34 

Pecci A, Klersy C, Gresele P, Lee KJ, De Rocco D, Bozzi V, Russo G, Heller PG, Loffredo G, Ballmaier M, et al: MYH9-related disease: A novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations. Hum Mutat. 35:236–247. 2014. View Article : Google Scholar : PubMed/NCBI

35 

Pecci A, Panza E, Pujol-Moix N, Klersy C, Di Bari F, Bozzi V, Gresele P, Lethagen S, Fabris F, Dufour C, et al: Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease. Hum Mutat. 29:409–417. 2008. View Article : Google Scholar : PubMed/NCBI

36 

Billingsley G, Santhiya ST, Paterson AD, Ogata K, Wodak S, Hosseini SM, Manisastry SM, Vijayalakshmi P, Gopinath PM, Graw J and Héon E: CRYBA4, a novel human cataract gene, is also involved in microphthalmia. Am J Hum Genet. 79:702–709. 2006. View Article : Google Scholar : PubMed/NCBI

37 

Vanita V, Guo G, Singh D, Ott CE and Robinson PN: Differential effect of cataract-associated mutations in MAF on transactivation of MAF target genes. Mol Cell Biochem. 396:137–145. 2014. View Article : Google Scholar : PubMed/NCBI

38 

Kumar M, Agarwal T, Kaur P, Kumar M, Khokhar S and Dada R: Molecular and structural analysis of genetic variations in congenital cataract. Mol Vis. 19:2436–2450. 2013.PubMed/NCBI

39 

Chen J, Wang Q, Cabrera PE, Zhong Z, Sun W, Jiao X, Chen Y, Govindarajan G, Naeem MA, Khan SN, et al: Molecular genetic analysis of Pakistani families with autosomal recessive congenital cataracts by homozygosity screening. Invest Ophthalmol Vis Sci. 58:2207–2217. 2017. View Article : Google Scholar : PubMed/NCBI

40 

Zhou G, Zhou N, Hu S, Zhao L, Zhang C and Qi Y: A missense mutation in CRYBA4 associated with congenital cataract and microcornea. Mol Vis. 16:1019–1024. 2010.PubMed/NCBI

41 

Chen K, Zhou YX, Li K, Qi LX, Zhang QF, Wang MC and Xiao JH: A novel three-round multiplex PCR for SNP genotyping with next generation sequencing. Anal Bioanal Chem. 408:4371–4377. 2016. View Article : Google Scholar : PubMed/NCBI

Related Articles

  • Abstract
  • View
  • Download
  • Twitter
Copy and paste a formatted citation
Spandidos Publications style
Wang Z, Huang C, Sun Y, Lv H, Zhang M and Li X: Novel mutations associated with autosomal‑dominant congenital cataract identified in Chinese families. Exp Ther Med 18: 2701-2710, 2019.
APA
Wang, Z., Huang, C., Sun, Y., Lv, H., Zhang, M., & Li, X. (2019). Novel mutations associated with autosomal‑dominant congenital cataract identified in Chinese families. Experimental and Therapeutic Medicine, 18, 2701-2710. https://doi.org/10.3892/etm.2019.7865
MLA
Wang, Z., Huang, C., Sun, Y., Lv, H., Zhang, M., Li, X."Novel mutations associated with autosomal‑dominant congenital cataract identified in Chinese families". Experimental and Therapeutic Medicine 18.4 (2019): 2701-2710.
Chicago
Wang, Z., Huang, C., Sun, Y., Lv, H., Zhang, M., Li, X."Novel mutations associated with autosomal‑dominant congenital cataract identified in Chinese families". Experimental and Therapeutic Medicine 18, no. 4 (2019): 2701-2710. https://doi.org/10.3892/etm.2019.7865
Copy and paste a formatted citation
x
Spandidos Publications style
Wang Z, Huang C, Sun Y, Lv H, Zhang M and Li X: Novel mutations associated with autosomal‑dominant congenital cataract identified in Chinese families. Exp Ther Med 18: 2701-2710, 2019.
APA
Wang, Z., Huang, C., Sun, Y., Lv, H., Zhang, M., & Li, X. (2019). Novel mutations associated with autosomal‑dominant congenital cataract identified in Chinese families. Experimental and Therapeutic Medicine, 18, 2701-2710. https://doi.org/10.3892/etm.2019.7865
MLA
Wang, Z., Huang, C., Sun, Y., Lv, H., Zhang, M., Li, X."Novel mutations associated with autosomal‑dominant congenital cataract identified in Chinese families". Experimental and Therapeutic Medicine 18.4 (2019): 2701-2710.
Chicago
Wang, Z., Huang, C., Sun, Y., Lv, H., Zhang, M., Li, X."Novel mutations associated with autosomal‑dominant congenital cataract identified in Chinese families". Experimental and Therapeutic Medicine 18, no. 4 (2019): 2701-2710. https://doi.org/10.3892/etm.2019.7865
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