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¦
Machado Joseph disease is not an allele of the spinocerebellar ataxia 2 locus
β Scribed by Elspeth C. Twist; Lindsay A. Farrer; Patrick M. Macleod; Joao Radvany; Susan Chamberlain; Roger N. Rosenberg; Guy A. Rouleau
- Publisher
- Springer
- Year
- 1994
- Tongue
- English
- Weight
- 398 KB
- Volume
- 93
- Category
- Article
- ISSN
- 0340-6717
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