Biallelic mutation of HSD17B4 induces middle age–onset spinocerebellar ataxia

OBJECTIVE: To determine the genetic underpinnings of slowly progressive spinocerebellar ataxia, autosomal recessive (SCAR), we performed exome analysis and examined the relationship between clinical severity and functional change induced by the mutation. METHODS: Homozygosity fingerprinting and exom...

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Bibliographic Details
Published in:Neurol Genet
Main Authors: Matsuda, Yukiko, Morino, Hiroyuki, Miyamoto, Ryosuke, Kurashige, Takashi, Kume, Kodai, Mizuno, Noriyoshi, Kanaya, Yuhei, Tada, Yui, Ohsawa, Ryosuke, Yokota, Kazunori, Shimozawa, Nobuyuki, Maruyama, Hirofumi, Kawakami, Hideshi
Format: Artigo
Language:Inglês
Published: Wolters Kluwer 2020
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6975179/
https://ncbi.nlm.nih.gov/pubmed/32042923
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000396
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