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Three novel missense mutations of WNK4, a kinase mutated in inherited hypertension, in Japanese hypertensives: Implication of clinical phenotypes

✍ Scribed by Kei Kamide; Shin Takiuchi; Chihiro Tanaka; Yoshikazu Miwa; Masayoshi Yoshii; Takeshi Horio; Toshifumi Mannami; Yoshihiro Kokubo; Hitonobu Tomoike; Yuhei Kawano; Toshiyuki Miyata

Book ID: 116207631
Publisher: Nature Publishing Group
Year: 2004
Tongue: English
Weight: 81 KB
Volume: 17
Category: Article
ISSN: 0895-7061
DOI: 10.1016/j.amjhyper.2003.12.020

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## Abstract Neuroferritinopathy is a hereditary neurodegenerative disorder caused by mutations in the ferritin light chain gene (__FTL1__). The cardinal features are progressive movement disturbance, hypoferritinemia, and iron deposition in the brain. To date, five mutations have been described in