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
Molecular Medicine Reports
Join Editorial Board Propose a Special Issue
Print ISSN: 1791-2997 Online ISSN: 1791-3004
Journal Cover
April-2019 Volume 19 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
April-2019 Volume 19 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

  • Supplementary Files
    • Supplementary_Data.pdf
Article Open Access

Identification of a pathogenic mutation in a Chinese pedigree with polycystic kidney disease

  • Authors:
    • Kexian Dong
    • Huanhuan Miao
    • Xueyuan Jia
    • Jie Wu
    • Han Wu
    • Jiawei Sun
    • Wei Ji
    • Hui Su
    • Lidan Xu
    • Xuelong Zhang
    • Siqi Zhu
    • Guohua Ji
    • Rongwei Guan
    • Hao Wang
    • Jing Bai
    • Jingcui Yu
    • Wenjing Sun
    • Xianli Zhou
    • Songbin Fu
  • View Affiliations / Copyright

    Affiliations: Laboratory of Medical Genetics, Harbin Medical University, Harbin, Heilongjiang 150081, P.R. China, In‑Patient Ultrasound Department, The Second Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang 150086, P.R. China, Department of Hepatopancreatobiliary Surgery, The Second Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang 150086, P.R. China, Scientific Research Centre, The Second Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang 150086, P.R. China
    Copyright: © Dong et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 2671-2679
    |
    Published online on: January 31, 2019
       https://doi.org/10.3892/mmr.2019.9921
  • 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

Polycystic kidney disease (PKD) is a life‑threatening inherited disease with a morbidity of 1:500‑1,000 worldwide. Numerous progressively enlarging cysts are observed in the bilateral kidneys of patients with PKD, inducing structural damage and loss of kidney function. The present study analyzed one family with PKD. Whole exome sequencing of the proband was performed to detect the pathogenic gene present in the family. Candidate gene segments for lineal consanguinity in the family were amplified by nest polymerase chain reaction, followed by Sanger sequencing. One novel duplication variant (NM_001009944.2:c.9359dupA:p.Y3120_E3121delinsX) and one missense mutation (c.G9022A:p.V3008M) were detected in PKD1. Additionally, the pathogenic substitutions in PKD1 published from the dataset were analyzed. Following analysis and confirmation, the duplication variant NM_001009944.2:c.9359dupA:p.Y3120_E3121delinsX in PKD1, within the polycystin‑1, lipoxygenase, α‑toxin domain, was considered to be the pathogenic factor in the examined family with autosomal dominant PKD. Additionally, based on the analysis of 4,805 pathogenic substitutions in PKD1 within various regions, the presence of the missense mutation in the N‑terminal domain of polycystin‑1 may present high pathogenicity in ADPKD.
View Figures

Figure 1

Figure 2

Figure 3

Figure 4

View References

1 

Obeidova L, Elisakova V, Stekrova J, Reiterova J, Merta M, Tesar V, Losan F and Kohoutova M: Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease. BMC Med Genet. 15:412014. View Article : Google Scholar : PubMed/NCBI

2 

Edrees BM, Athar M, Abduljaleel Z, Al-Allaf FA, Taher MM, Khan W, Bouazzaoui A, Al-Harbi N, Safar R, Al-Edressi H, et al: Functional alterations due to amino acid changes and evolutionary comparative analysis of ARPKD and ADPKD genes. Genom Data. 10:127–134. 2016. View Article : Google Scholar : PubMed/NCBI

3 

Robinson C, Hiemstra TF, Spencer D, Waller S, Daboo L, Karet Frankl FE and Sandford RN: Clinical utility of PKD2 mutation testing in a polycystic kidney disease cohort attending a specialist nephrology out-patient clinic. BMC Nephrol. 13:792012. View Article : Google Scholar : PubMed/NCBI

4 

Abdelwahed M, Hilbert P, Ahmed A, Mahfoudh H, Bouomrani S, Dey M, Hachicha J, Kamoun H, Keskes-Ammar L and Belguith N: Mutational analysis in patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD): Identification of five mutations in the PKD1 gene. Gene. May 31–2018.(Epub ahead of print). View Article : Google Scholar : PubMed/NCBI

5 

Yu G, Qian X, Wu Y, Li X, Chen J, Xu J and Qi J: Analysis of gene mutations in PKD1/PKD2 by multiplex ligation-dependent probe amplification: Some new findings. Ren Fail. 37:366–371. 2015. View Article : Google Scholar : PubMed/NCBI

6 

Litvinchuk T, Tao Y, Singh R and Vasylyeva TL: A case of new familiar genetic variant of autosomal dominant polycystic kidney disease-2: A case study. Front Pediatr. 3:822015. View Article : Google Scholar : PubMed/NCBI

7 

Casteleijn NF, Spithoven EM, Rookmaaker MB, Vergouwen MD and Gansevoort RT: Bilateral cysts in the choroid plexus in a patient with autosomal dominant polycystic kidney disease. Nephrol Dial Transplant. 30:859–860. 2015. View Article : Google Scholar : PubMed/NCBI

8 

Liu B, Chen SC, Yang YM, Yan K, Qian YQ, Zhang JY, Hu YT, Dong MY, Jin F, Huang HF and Xu CM: Identification of novel PKD1 and PKD2 mutations in a Chinese population with autosomal dominant polycystic kidney disease. Sci Rep. 5:174682015. View Article : Google Scholar : PubMed/NCBI

9 

Hafer AS and Conran RM: Autosomal recessive polycystic kidney disease. Acad Pathol. 4:23742895177185602017. View Article : Google Scholar : PubMed/NCBI

10 

Thomas C, Zühlsdorf A, Hörtnagel K, Mulahasanovic L, Grauer OM, Kümpers P, Wiendl H and Meuth SG: A novel PKD1 mutation associated with autosomal dominant kidney disease and cerebral cavernous malformation. Front Neurol. 9:3832018. View Article : Google Scholar : PubMed/NCBI

11 

Somlo S, Wirth B, Germino GG, Weinstat-Saslow D, Gillespie GA, Himmelbauer H, Steevens L, Coucke P, Willems P, Bachner L, et al: Fine genetic localization of the gene for autosomal dominant polycystic kidney disease (PKD1) with respect to physically mapped markers. Genomics. 13:152–158. 1992. View Article : Google Scholar : PubMed/NCBI

12 

Gainullin VG, Hopp K, Ward CJ, Hommerding CJ and Harris PC: Polycystin-1 maturation requires polycystin-2 in a dose-dependent manner. J Clin Invest. 125:607–620. 2015. View Article : Google Scholar : PubMed/NCBI

13 

Kim DY and Park JH: Genetic mechanisms of ADPKD. Adv Exp Med Biol. 933:13–22. 2016. View Article : Google Scholar : PubMed/NCBI

14 

Shin YB and Park JH: Recent trends in ADPKD research. Adv Exp Med Biol. 933:3–11. 2016. View Article : Google Scholar : PubMed/NCBI

15 

Yang Y and Ehrlich BE: Structural studies of the C-terminal tail of polycystin-2 (PC2) reveal insights into the mechanisms used for the functional regulation of PC2. J Physiol. 594:4141–4149. 2016. View Article : Google Scholar : PubMed/NCBI

16 

Venugopal J and Blanco G: On the many actions of ouabain: Pro-cystogenic effects in autosomal dominant polycystic kidney disease. Molecules. 22:E7292017. View Article : Google Scholar : PubMed/NCBI

17 

Rangan GK, Lopez-Vargas P, Nankivell BJ, Tchan M, Tong A, Tunnicliffe DJ and Savige J: Autosomal dominant polycystic kidney disease: A path forward. Semin Nephrol. 35:524–537. 2015. View Article : Google Scholar : PubMed/NCBI

18 

Saigusa T and Bell PD: Molecular pathways and therapies in autosomal-dominant polycystic kidney disease. Physiology (Bethesda). 30:195–207. 2015.PubMed/NCBI

19 

Ong AC and Harris PC: A polycystin-centric view of cyst formation and disease: The polycystins revisited. Kidney Int. 88:699–710. 2015. View Article : Google Scholar : PubMed/NCBI

20 

Santoso NG, Cebotaru L and Guggino WB: Polycystin-1, 2, and STIM1 interact with IP(3)R to modulate ER Ca release through the PI3K/Akt pathway. Cell Physiol Biochem. 27:715–726. 2011. View Article : Google Scholar : PubMed/NCBI

21 

Yamaguchi T, Wallace DP, Magenheimer BS, Hempson SJ, Grantham JJ and Calvet JP: Calcium restriction allows cAMP activation of the B-Raf/ERK pathway, switching cells to a cAMP-dependent growth-stimulated phenotype. J Biol Chem. 279:40419–40430. 2004. View Article : Google Scholar : PubMed/NCBI

22 

Yamaguchi T, Pelling JC, Ramaswamy NT, Eppler JW, Wallace DP, Nagao S, Rome LA, Sullivan LP and Grantham JJ: cAMP stimulates the in vitro proliferation of renal cyst epithelial cells by activating the extracellular signal-regulated kinase pathway. Kidney Int. 57:1460–1471. 2000. View Article : Google Scholar : PubMed/NCBI

23 

Rossetti S, Kubly VJ, Consugar MB, Hopp K, Roy S, Horsley SW, Chauveau D, Rees L, Barratt TM, van't Hoff WG, et al: Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease. Kidney Int. 75:848–855. 2009. View Article : Google Scholar : PubMed/NCBI

24 

Nagao S, Nishii K, Yoshihara D, Kurahashi H, Nagaoka K, Yamashita T, Takahashi H, Yamaguchi T, Calvet JP and Wallace DP: Calcium channel inhibition accelerates polycystic kidney disease progression in the Cy/+ rat. Kidney Int. 73:269–277. 2008. View Article : Google Scholar : PubMed/NCBI

25 

Ghata J and Cowley BD Jr: Polycystic kidney disease. Compr Physiol. 7:945–975. 2017. View Article : Google Scholar : PubMed/NCBI

26 

Trudel M, Yao Q and Qian F: The role of G-protein-coupled receptor proteolysis site cleavage of polycystin-1 in renal physiology and polycystic kidney disease. Cells. 5:E32016. View Article : Google Scholar : PubMed/NCBI

27 

Chapin HC, Rajendran V and Caplan MJ: Polycystin-1 surface localization is stimulated by polycystin-2 and cleavage at the G protein-coupled receptor proteolytic site. Mol Biol Cell. 21:4338–4348. 2010. View Article : Google Scholar : PubMed/NCBI

28 

Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, Marth G, Abecasis G and Durbin R; 1000 Genome Project Data Processing Subgroup, : The Sequence Alignment/Map format and SAMtools. Bioinformatics. 25:2078–2079. 2009. View Article : Google Scholar : PubMed/NCBI

29 

Al-Bhalal L and Akhtar M: Molecular basis of autosomal dominant polycystic kidney disease. Adv Anat Pathol. 12:126–133. 2005. View Article : Google Scholar : PubMed/NCBI

30 

Gout AM, Martin NC, Brown AF and Ravine D: PKDB: Polycystic kidney disease mutation database-a gene variant database for autosomal dominant polycystic kidney disease. Hum Mutat. 28:654–659. 2007. View Article : Google Scholar : PubMed/NCBI

31 

Dedoussis GV, Luo Y, Starremans P, Rossetti S, Ramos AJ, Cantiello HF, Katsareli E, Ziroyannis P, Lamnissou K, Harris PC and Zhou J: Co-inheritance of a PKD1 mutation and homozygous PKD2 variant: A potential modifier in autosomal dominant polycystic kidney disease. Eur J Clin Invest. 38:180–190. 2008. View Article : Google Scholar : PubMed/NCBI

32 

Cornec-Le Gall E, Audrézet MP, Chen JM, Hourmant M, Morin MP, Perrichot R, Charasse C, Whebe B, Renaudineau E, Jousset P, et al: Type of PKD1 mutation influences renal outcome in ADPKD. J Am Soc Nephrol. 24:1006–1013. 2013. View Article : Google Scholar : PubMed/NCBI

33 

Neumann HP, Bacher J, Nabulsi Z, Ortiz Brüchle N, Hoffmann MM, Schaeffner E, Nürnberger J, Cybulla M, Wilpert J, Riegler P, et al: Adult patients with sporadic polycystic kidney disease: The importance of screening for mutations in the PKD1 and PKD2 genes. Int Urol Nephrol. 44:1753–1762. 2012. View Article : Google Scholar : PubMed/NCBI

34 

Yu C, Yang Y, Zou L, Hu Z, Li J, Liu Y, Ma Y, Ma M, Su D and Zhang S: Identification of novel mutations in Chinese Hans with autosomal dominant polycystic kidney disease. BMC Med Genet. 12:1642011. View Article : Google Scholar : PubMed/NCBI

35 

Kinoshita M, Higashihara E, Kawano H, Higashiyama R, Koga D, Fukui T, Gondo N, Oka T, Kawahara K, Rigo K, et al: Technical evaluation: Identification of pathogenic mutations in PKD1 and PKD2 in patients with autosomal dominant polycystic kidney disease by next-generation sequencing and use of a comprehensive new classification system. PLoS One. 11:e01662882016. View Article : Google Scholar : PubMed/NCBI

36 

Liu J, Li L and Liu Q: Mutational analysis of PKD1 gene in a Chinese family with autosomal dominant polycystic kidney disease. Int J Clin Exp Pathol. 8:13289–13292. 2015.PubMed/NCBI

37 

Carrera P, Calzavara S, Magistroni R, den Dunnen JT, Rigo F, Stenirri S, Testa F, Messa P, Cerutti R, Scolari F, et al: Deciphering variability of PKD1 and PKD2 in an italian cohort of 643 patients with autosomal dominant polycystic kidney disease (ADPKD). Sci Rep. 6:308502016. View Article : Google Scholar : PubMed/NCBI

38 

Sha YK, Sha YW, Mei LB, Huang XJ, Wang X, Lin SB, Li L and Li P: Use of targeted sequence capture and high-throughput sequencing identifies a novel PKD1 mutation involved in adult polycystic kidney disease. Gene. 634:1–4. 2017. View Article : Google Scholar : PubMed/NCBI

39 

Mallawaarachchi AC, Furlong TJ, Shine J, Harris PC and Cowley MJ: Population data improves variant interpretation in autosomal dominant polycystic kidney disease. Genet Med. Oct 29–2018.(Epub ahead of print). doi: 10.1038/s41436-018-0324-x. View Article : Google Scholar : PubMed/NCBI

Related Articles

  • Abstract
  • View
  • Download
  • Twitter
Copy and paste a formatted citation
Spandidos Publications style
Dong K, Miao H, Jia X, Wu J, Wu H, Sun J, Ji W, Su H, Xu L, Zhang X, Zhang X, et al: Identification of a pathogenic mutation in a Chinese pedigree with polycystic kidney disease. Mol Med Rep 19: 2671-2679, 2019.
APA
Dong, K., Miao, H., Jia, X., Wu, J., Wu, H., Sun, J. ... Fu, S. (2019). Identification of a pathogenic mutation in a Chinese pedigree with polycystic kidney disease. Molecular Medicine Reports, 19, 2671-2679. https://doi.org/10.3892/mmr.2019.9921
MLA
Dong, K., Miao, H., Jia, X., Wu, J., Wu, H., Sun, J., Ji, W., Su, H., Xu, L., Zhang, X., Zhu, S., Ji, G., Guan, R., Wang, H., Bai, J., Yu, J., Sun, W., Zhou, X., Fu, S."Identification of a pathogenic mutation in a Chinese pedigree with polycystic kidney disease". Molecular Medicine Reports 19.4 (2019): 2671-2679.
Chicago
Dong, K., Miao, H., Jia, X., Wu, J., Wu, H., Sun, J., Ji, W., Su, H., Xu, L., Zhang, X., Zhu, S., Ji, G., Guan, R., Wang, H., Bai, J., Yu, J., Sun, W., Zhou, X., Fu, S."Identification of a pathogenic mutation in a Chinese pedigree with polycystic kidney disease". Molecular Medicine Reports 19, no. 4 (2019): 2671-2679. https://doi.org/10.3892/mmr.2019.9921
Copy and paste a formatted citation
x
Spandidos Publications style
Dong K, Miao H, Jia X, Wu J, Wu H, Sun J, Ji W, Su H, Xu L, Zhang X, Zhang X, et al: Identification of a pathogenic mutation in a Chinese pedigree with polycystic kidney disease. Mol Med Rep 19: 2671-2679, 2019.
APA
Dong, K., Miao, H., Jia, X., Wu, J., Wu, H., Sun, J. ... Fu, S. (2019). Identification of a pathogenic mutation in a Chinese pedigree with polycystic kidney disease. Molecular Medicine Reports, 19, 2671-2679. https://doi.org/10.3892/mmr.2019.9921
MLA
Dong, K., Miao, H., Jia, X., Wu, J., Wu, H., Sun, J., Ji, W., Su, H., Xu, L., Zhang, X., Zhu, S., Ji, G., Guan, R., Wang, H., Bai, J., Yu, J., Sun, W., Zhou, X., Fu, S."Identification of a pathogenic mutation in a Chinese pedigree with polycystic kidney disease". Molecular Medicine Reports 19.4 (2019): 2671-2679.
Chicago
Dong, K., Miao, H., Jia, X., Wu, J., Wu, H., Sun, J., Ji, W., Su, H., Xu, L., Zhang, X., Zhu, S., Ji, G., Guan, R., Wang, H., Bai, J., Yu, J., Sun, W., Zhou, X., Fu, S."Identification of a pathogenic mutation in a Chinese pedigree with polycystic kidney disease". Molecular Medicine Reports 19, no. 4 (2019): 2671-2679. https://doi.org/10.3892/mmr.2019.9921
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