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Autosomal dominant polycystic kidney disease: Comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients

✍ Scribed by Marie-Pierre Audrézet; Emilie Cornec-Le Gall; Jian-Min Chen; Sylvia Redon; Isabelle Quéré; Joelle Creff; Caroline Bénech; Sandrine Maestri; Yann Le Meur; Claude Férec


Book ID
112099764
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
465 KB
Volume
33
Category
Article
ISSN
1059-7794

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## Paalman Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic renal disorder (incidence, 1:1,000). The mutation of PKD1 is thought to account for 85% of ADPKD. Although a considerable number of studies on PKD1 mutation have been published recently, most of them concern Caucasi