A comprehensive search for mutations in thePKD1andPKD2in Japanese subjects with autosomal dominant polycystic kidney disease

Author:

Kurashige M.12,Hanaoka K.1,Imamura M.2,Udagawa T.1,Kawaguchi Y.13,Hasegawa T.13,Hosoya T.1,Yokoo T.1,Maeda S.2

Affiliation:

1. Division of Nephrology and Hypertension, Department of Internal Medicine, School of Medicine; The Jikei University; Minato Tokyo Japan

2. Laboratory for Endocrinology, Metabolism and Kidney Diseases; RIKEN Center for Integrative Medical Sciences; Yokohama Kanagawa Japan

3. Department of Medicine; Kanagawa Prefectural Shiomidai Hospital; Yokohama Kanagawa Japan

Funder

Ministry of Health, Labour and Welfare of Japan

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference13 articles.

1. The polycystic kidney disease1 gene encodes a 14kb transcript and lies within a duplicated region on chromosome 16;European Polycystic Kidney Disease Consortium;Cell,1994

2. PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein;Mochizuki;Science,1996

3. Identification of patients with autosomal dominant polycystic kidney disease at highest risk for end-stage renal disease;Johnson;J Am Soc Nephrol,1997

4. Comparison of phenotypes of polycystic kidney disease types 1 and 2;Hateboer;Lancet,1999

5. Types of PKD1 mutation influences renal outcome in ADPKD;Cornec-Le Gall;J Am Soc Nephrol,2013

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