Mechanisms of expansions of a pentanucleotide repeat responsible for spinocerebellar ataxia 10.

Cherng, Nicole Binanne.

2010

Description
  • Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant disease characterized by ataxia and, in some cases, epilepsy, which is caused by expansions of the (ATTCT)n repeat within an intron of the ATXN10 gene. The repeat can expand from 10-22 copies in normal individuals up to 4,500 repeats in SCA10 patients. To understand the mechanisms responsible for (ATTCT)n repeat instability, we set up... read more
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