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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Detalles Bibliográficos
Autores principales: Sakai, Haruya, Yoshida, Kunihiro, Shimizu, Yusaku, Morita, Hiroshi, Ikeda, Shu-ichi, Matsumoto, Naomichi
Formato: Texto
Lenguaje:English
Publicado: Springer-Verlag 2010
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2944954/
https://www.ncbi.nlm.nih.gov/pubmed/20424877
http://dx.doi.org/10.1007/s10048-010-0245-6

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