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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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Dettagli Bibliografici
Pubblicato in:Neurol Genet
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Wolters Kluwer 2020
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Accesso online: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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