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Genotypes of autosomal dominant polycystic kidney disease in Japanese

โœ Scribed by M. Mizoguchi; T. Tamura; A. Yamaki; E. Higashihara; Y. Shimizu

Publisher
Nature Publishing Group
Year
2002
Tongue
English
Weight
46 KB
Volume
47
Category
Article
ISSN
1435-232X

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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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The results of classical segregation analysis on 159 families with polycystic kidney disease (PKD) are presented. It had been previously estimated that about 95% of autosomal dominant PDK (ADPKD) families have PKD 1, the gene localized to chromosome 16p. The main purpose of the study was to determin