Publications:

Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.

Journal Of The American Society Of Nephrology : Jasn

Rossetti, Sandro S; Hopp, Katharina K; Sikkink, Robert A RA; Sundsbak, Jamie L JL; Lee, Yean Kit YK; Kubly, Vickie V; Eckloff, Bruce W BW; Ward, Christopher J CJ; Winearls, Christopher G CG; Torres, Vicente E VE; Harris, Peter C PC

Publication Date: 2012-05

Variant appearance in text: PKD1: 3058C>T; Gln1020X

PubMed Link: 22383692

Variant Present in the following documents:

• Main text

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Identification of novel mutations in Chinese Hans with autosomal dominant polycystic kidney disease.

Bmc Medical Genetics

Yu, Chaowen C; Yang, Yuan Y; Zou, Lin L; Hu, Zhangxue Z; Li, Jing J; Liu, Yunqiang Y; Ma, Yongxin Y; Ma, Mingyi M; Su, Dan D; Zhang, Sizhong S

Publication Date: 2011-12-20

Variant appearance in text: PKD1: 3058C>T; Gln1020*

PubMed Link: 22185115

Variant Present in the following documents:

• Main text
• 1471-2350-12-164.pdf

View BVdb publication page