Publications:

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: E3020X

PubMed Link: 12482949

Variant Present in the following documents:

• Main text

View BVdb publication page

Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications.

American Journal Of Human Genetics

Rossetti, S S; Strmecki, L L; Gamble, V V; Burton, S S; Sneddon, V V; Peral, B B; Roy, S S; Bakkaloglu, A A; Komel, R R; Winearls, C G CG; Harris, P C PC

Publication Date: 2001-01

Variant appearance in text: PKD1: E3020X

PubMed Link: 11115377

Variant Present in the following documents:

• Main text

View BVdb publication page