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
β¦ LIBER β¦
CAG repeat expansion of Machado-Joseph disease in the Japanese: analysis of the repeat instability for parental transmission, and correlation with disease phenotype
β Scribed by Hidenao Sasaki; Akemi Wakisaka; Toshiyuki Fukazawa; Kiyoshi Iwabuchi; Takeshi Hamada; Akio Takada; Eiichiro Mukai; Tohru Matsuura; Takashi Yoshiki; Kunio Tashiro
- Book ID
- 118932307
- Publisher
- Elsevier Science
- Year
- 1995
- Tongue
- English
- Weight
- 714 KB
- Volume
- 133
- Category
- Article
- ISSN
- 0022-510X
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