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
✦ LIBER ✦
Somatic mosaicism in the central nervous system in spinocerebellar ataxia type 1 and machado-joseph disease
✍ Scribed by Iscia Lopes-Cendes; Patrícia Maciel; Stephen Kish; Claudia Gaspar; Isabel Silveira; Yves Robitaille; H. Brent Clark; Arnulf H. Koeppen; Martha Nance; Lawrence Schut; Paula Coutinho; Jorge Sequeiros; Dr Guy A. Rouleau
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 805 KB
- Volume
- 40
- Category
- Article
- ISSN
- 0364-5134
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