Article
A high prevalence of Gitelman's syndrome mutations in Japanese.
Hypertension research : official journal of the Japanese Society of Hypertension - 1 May 2004
Tago Naomi, Kokubo Yoshihiro, Inamoto Nozomu, Naraba Hiroaki, Tomoike Hitonobu, Iwai Naoharu
Abstract excerpt
Although Gitelman's syndrome (GS) is considered a rare disorder, it is an autosomal recessive phenotype and the frequency of heterozygote subjects might be higher than suspected. The purpose of this study was to assess the prevalence of GS in Japanese and the effects of heterozygous GS mutations on blood pressure levels. We used the TaqMan system to detect 9 Gitelman's syndrome mutations in SLC12A3 that have been...
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