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The unique co-occurrence of spinocerebellar ataxia type 10 (SCA10) and Huntington disease

✍ Scribed by Richard H. Roxburgh; Corrie O. Smith; Jung G. Lim; David F. Bachman; Erica Byrd; Thomas D. Bird


Book ID
119304690
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
180 KB
Volume
324
Category
Article
ISSN
0022-510X

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An expanded and unstable CAG repeat in the coding region of the MJD1 gene is the mutation responsible for spinocerebellar ataxia 3/Machado-Joseph disease. In order to determine whether there was a higher degree of instability in affected regions, the size of the expanded CAG repeat was analyzed in d