Molecular genetic analysis of polycystic kidney disease 1 and polycystic kidney disease 2 mutations in pedigrees with autosomal dominant polycystic kidney disease

Background: Dysfunction of polycystin-1 or polycystin-2, the proteins encoded by polycystic kidney disease 1 (PKD1) and PKD2, respectively, are the cause of autosomal dominant PKD (ADPKD). This genetically heterogeneous monogenic disorder is the most common inherited kidney disease. The disease mani...

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Bibliographic Details
Main Authors: Fatemeh Bitarafan, Masoud Garshasbi
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2019-01-01
Series:Journal of Research in Medical Sciences
Subjects:
Online Access:http://www.jmsjournal.net/article.asp?issn=1735-1995;year=2019;volume=24;issue=1;spage=44;epage=44;aulast=Bitarafan