Type of PKD1 mutation influences renal outcome in ADPKD.

Cornec-Le Gall, Emilie; Audrézet, Marie-Pierre; Chen, Jian-Min; Hourmant, Maryvonne; Morin, Marie-Pascale; Perrichot, Régine; Charasse, Christophe; Whebe, Bassem; Renaudineau, Eric; Jousset, Philippe; Guillodo, Marie-Paule; Grall-Jezequel, Anne; Saliou, Philippe; Férec, Claude; Le Meur, Yannick

doi:10.1681/asn.2012070650

Public

Type of PKD1 mutation influences renal outcome in ADPKD.

Published in Journal of the American Society of Nephrology : JASN • May 1, 2013

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Authors:

Emilie Cornec-Le Gall

,

Marie-Pierre Audrézet

,

Jian-Min Chen

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is heterogeneous with regard to genic and allelic heterogeneity, as well as phenotypic variability. The genotype-phenotype relationship in ADPKD is not completely understood. Here, we studied 741 patients with ADPKD from 519 pedigrees in the Genky...

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