HuGE Literature Finder
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Identification of a Splicing Mutation in ITPR1 via WES in a Chinese Early-Onset Spinocerebellar Ataxia Family. Cerebellum (London, England) 2017 12 17 (3): 294-299. Wang Li, Hao Ying, Yu Peng, Cao Zhenhua, Zhang Jin, Zhang Xin, Chen Yuanyuan, Zhang Hao, Gu Weiho |
Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene. Journal of neurology 2015 May 262 (5): 1278-84. Sasaki Masayuki, Ohba Chihiro, Iai Mizue, Hirabayashi Shinichi, Osaka Hitoshi, Hiraide Takuya, Saitsu Hirotomo, Matsumoto Naomic |
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- Page last updated:Mar 22, 2023
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