Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2

The spinocerebellar ataxias (SCA) are a genetically and clinically heterogeneous group of diseases, characterized by dominant inheritance, progressive cerebellar ataxia and diverse extracerebellar symptoms. A subgroup of the ataxias is caused by unstable CAG-repeat expansions in their respective gen...

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Detalhes bibliográficos
Main Authors: Vinther-Jensen, Tua, Ek, Jakob, Duno, Morten, Skovby, Flemming, Hjermind, Lena E, Nielsen, Jørgen E, Nielsen, Troels Tolstrup
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3658194/
https://ncbi.nlm.nih.gov/pubmed/23047744
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.231
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