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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Detalhes bibliográficos
Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: Wolters Kluwer 2020
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Article
Acesso em linha: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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