Publications:

Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease.

Molecular Genetics And Metabolism

Garcia-Gonzalez, Miguel A MA; Jones, Jeffrey G JG; Allen, Susan K SK; Palatucci, Christopher M CM; Batish, Sat D SD; Seltzer, William K WK; Lan, Zheng Z; Allen, Erica E; Qian, Feng F; Lens, Xose M XM; Pei, York Y; Germino, Gregory G GG; Watnick, Terry J TJ

Publication Date: 2007

Variant appearance in text: PKD1: F3064L

PubMed Link: 17574468

Variant Present in the following documents:

• Main text

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Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Qian, Feng F; Boletta, Alessandra A; Bhunia, Anil K AK; Xu, Hangxue H; Liu, Lijuan L; Ahrabi, Ali K AK; Watnick, Terry J TJ; Zhou, Fang F; Germino, Gregory G GG

Publication Date: 2002-12-24

Variant appearance in text: PKD1: F3064L

PubMed Link: 12482949

Variant Present in the following documents:

• Main text

View BVdb publication page