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Putative mutation of PKD1 gene responsible for autosomal dominant polycystic kidney disease in a Chinese family

✍ Scribed by Jing Li; Chaowen Yu; Ye Tao; Yuan Yang; Zhangxue Hu; Sizhong Zhang


Book ID
108980317
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
247 KB
Volume
18
Category
Article
ISSN
0919-8172

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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

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## Communicated by Michel Goossens Autosomal dominant polycystic kidney disease (ADPKD) is a common disorder mostly characterized by cyst formation in kidney tubules. The majority of ADPKD cases is caused by mutations in the PKD1 gene, but no prevalent mutation has been reported. By heteroduplex a

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Autosomal dominant polycystic kidney disease (ADPKD) arises from mutations in the PKD1 and PKD2 genes. The Polycystic Kidney Disease Mutation Database (PKDB) is an internet-accessible relational database containing comprehensive information about germline and somatic disease-causing variants within