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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Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: The American Society of Human Genetics 2004
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1182085/
https://ncbi.nlm.nih.gov/pubmed/15127363
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