Article
A historical aspect of lysinuric protein intolerance in a northern part of Iwate, Japan.
Human biology - 1 Feb 2003
Inoue Yusuke, Fukagaya Keiichi, Kada Akiko, Matsura Norio, Takasago Yuhei, Koizumi Akio
Abstract excerpt
Historical aspects of a local cluster of individuals with lysinuric protein intolerance (LPI) were studied in a sample of patients and in a mass-screened population in a northern area of Japan. The historical aspects were investigated by estimating the mutation age and analyses of haplotype diversity of the chromosome carrying the R410X mutation. This mutation occurred over 1000 years ago, and its fixation in the...
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