Somatic and Germline Instability of the ATTCT Repeat in Spinocerebellar Ataxia Type 10

Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant disorder characterized by ataxia, seizures, and anticipation. It is caused by an expanded ATTCT pentanucleotide repeat in intron 9 of a novel gene, designated “SCA10.” The ATTCT expansion in SCA10 represents a novel class of microsatell...

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Main Authors: Matsuura, Tohru, Fang, Ping, Lin, Xi, Khajavi, Mehrdad, Tsuji, Kuniko, Rasmussen, Astrid, Grewal, Raji P., Achari, Madhureeta, Alonso, Maria E., Pulst, Stefan M., Zoghbi, Huda Y., Nelson, David L., Roa, Benjamin B., Ashizawa, Tetsuo
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2004
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1182085/
https://ncbi.nlm.nih.gov/pubmed/15127363
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