A New PKD1 Mutation Discovered in a Chinese Family with Autosomal Polycystic Kidney Disease

A New PKD1 Mutation Discovered in a Chinese Family with Autosomal Polycystic Kidney Disease

Background/Aims: Autosomal-dominant polycystic kidney disease (ADPKD), a heterogeneous genetic disorder characterized by massive kidney enlargement and progressive chronic kidney disease, is due to abnormal proliferation of renal tubular epithelium. ADPKD is known to be caused by mutations in PKD1 a...

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Bibliographic Details
Main Authors:	Zhendi Wang, Yang Wang, Jing Xiong
Format:	Article
Language:	English
Published:	Karger Publishers 2014-04-01
Series:	Kidney & Blood Pressure Research
Subjects:	PKD gene Frame-shift mutation Gene screening Autosomal polycystic kidney disease
Online Access:	http://www.karger.com/Article/FullText/355772

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