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Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series

Spinocerebellar ataxia type 15 and 16 (SCA15/16) are autosomal dominant cerebellar ataxias that are slowly progressive with a predominantly pure ataxia phenotype (ADCA III). The locus for SCA15 was first mapped to 3p24.2–3pter and subsequently full or partial deletions in the inositol 1,4,5-triphosp...

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Detalhes bibliográficos
Main Authors: van de Leemput, J, Wavrant-De Vrièze, F, Rafferty, I, Bras, JM, Giunti, P, Fisher, EMC, Hardy, J, Singleton, AB, Houlden, H
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2864955/
https://ncbi.nlm.nih.gov/pubmed/20437544
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mds.22970
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