Analysis of an insertion mutation in a cohort of 94 patients with spinocerebellar ataxia type 31 from Nagano, Japan

Spinocerebellar ataxia type 31 (SCA31) is a recently defined subtype of autosomal dominant cerebellar ataxia (ADCA) characterized by adult-onset, pure cerebellar ataxia. The C/T substitution in the 5′-untranslated region of the puratrophin-1 gene (PLEKHG4) or a disease-specific haplotype within the...

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Hlavní autoři: Sakai, Haruya, Yoshida, Kunihiro, Shimizu, Yusaku, Morita, Hiroshi, Ikeda, Shu-ichi, Matsumoto, Naomichi
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer-Verlag 2010
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Original Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2944954/
https://ncbi.nlm.nih.gov/pubmed/20424877
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10048-010-0245-6
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