Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability

Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant neurodegenerative disorder caused by a noncoding ATTCT pentanucleotide expansion. An inverse correlation between SCA10 expansion size and age at onset has been reported, and genetic anticipation has been documented. Interruptions in the...

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Main Authors: McFarland, Karen N, Liu, Jilin, Landrian, Ivette, Gao, Rui, Sarkar, Partha S, Raskin, Salmo, Moscovich, Mariana, Gatto, Emilia M, Teive, Hélio A G, Ochoa, Adriana, Rasmussen, Astrid, Ashizawa, Tetsuo
Formato: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group 2013
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3798839/
https://ncbi.nlm.nih.gov/pubmed/23443018
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.32
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