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Interruptions in the Expanded ATTCT Repeat of Spinocerebellar Ataxia Type 10: Repeat Purity as a Disease Modifier?

Spinocerebellar ataxia type 10 (SCA10) is one of numerous genetic disorders that result from simple repeat expansions. SCA10 is caused by expansion of an intronic ATTCT pentanucleotide repeat tract. It is clinically characterized by progressive ataxia, seizures, and anticipation, which can vary with...

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Detalhes bibliográficos
Main Authors: Matsuura, Tohru, Fang, Ping, Pearson, Christopher E., Jayakar, Parul, Ashizawa, Tetsuo, Roa, Benjamin B., Nelson, David L.
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2006
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1380209/
https://ncbi.nlm.nih.gov/pubmed/16385455
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