Article
Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients.
Human mutation - 1 Jun 2002
Inoue Sumiko, Inoue Kayoko, Utsunomiya Maki, Nozaki Jun-Ichi, Yamada Yuichiro, Iwasa Toshio, Mori Eitaro, Yoshinaga Takeo, Koizumi Akio
Abstract excerpt
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 Caucasian ADPKD patients. In the present study, we examined PKD1 mutations in Japanese ADPKD patients. Long-range polymerase chain...
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