First report of a Japanese family with spinocerebellar ataxia type 10: The second report from Asia after a report from China

Spinocerebellar ataxia type 10 (SCA10) is an autosomal-dominant cerebellar ataxia that is variably accompanied by epilepsy and other neurological disorders. It is caused by an expansion of the ATTCT pentanucleotide repeat in intron 9 of the ATXN10 gene. Until now, SCA10 was almost exclusively found...

詳細記述

保存先:
書誌詳細
出版年:PLoS One
主要な著者: Naito, Hiroyuki, Takahashi, Tetsuya, Kamada, Masaki, Morino, Hiroyuki, Yoshino, Hiroyo, Hattori, Nobutaka, Maruyama, Hirofumi, Kawakami, Hideshi, Matsumoto, Masayasu
フォーマット: Artigo
言語:Inglês
出版事項: Public Library of Science 2017
主題:
Research Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5438172/
https://ncbi.nlm.nih.gov/pubmed/28542277
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0177955
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