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...

Descrizione completa

Salvato in:
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
Soggetti:
Article
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
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi