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A Novel Missense Mutation, F826Y, in the Mineralocorticoid Receptor Gene in Japanese Hypertensives: Its Implications for Clinical Phenotypes

✍ Scribed by KAMIDE, Kei; YANG, Jin; KOKUBO, Yoshihiro; TAKIUCHI, Shin; MIWA, Yoshikazu; HORIO, Takeshi; TANAKA, Chihiro; BANNO, Mariko; NAGURA, Junko; OKAYAMA, Akira


Book ID
111776657
Publisher
Nature Publishing Group
Year
2005
Tongue
English
Weight
193 KB
Volume
28
Category
Article
ISSN
0916-9636

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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