Article
A novel missense mutation, F826Y, in the mineralocorticoid receptor gene in Japanese hypertensives: its implications for clinical phenotypes.
Hypertension research : official journal of the Japanese Society of Hypertension - 1 Sept 2005
Kamide Kei, Yang Jin, Kokubo Yoshihiro, Takiuchi Shin, Miwa Yoshikazu, Horio Takeshi, Tanaka Chihiro, Banno Mariko, Nagura Junko, Okayama Akira, Tomoike Hitonobu, Kawano Yuhei, Miyata Toshiyuki
Abstract excerpt
A gain-of-function mutation resulting in the S810L amino acid substitution in the hormone-binding domain of the mineralocorticoid receptor (MR, locus symbol NR3C2) is responsible for early-onset hypertension that is exacerbated in pregnancy. The objective of this study was to test whether other types of missense mutations in the hormone-binding domain could be implicated in hypertension in Japanese. Here, we...
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