A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8

A Japanese family with autosomal recessive cerebellar ataxia type 8 (SCAR8, MIM 610743) is described. We identified a novel SYNE1 frameshift deletion (c.6843del, p.Q2282Sfs*3). This family shared similar clinical manifestations characterized by adult-onset, relatively pure cerebellar ataxia with mil...

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Dades bibliogràfiques
Publicat a:Hum Genome Var
Autors principals: Yoshinaga, Tsuneaki, Nakamura, Katsuya, Ishikawa, Masumi, Yamaguchi, Tomomi, Takano, Kyoko, Wakui, Keiko, Kosho, Tomoki, Yoshida, Kunihiro, Fukushima, Yoshimitsu, Sekijima, Yoshiki
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2017
Matèries:
Data Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5656760/
https://ncbi.nlm.nih.gov/pubmed/29081981
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2017.52
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