Repeat length and disease progression in spinocerebellar ataxia type 3
✍ Scribed by T Klockgether; B Kramer; R Lüdtke; L Schöls; F Laccone
- Book ID
- 118552329
- Publisher
- The Lancet
- Year
- 1996
- Tongue
- English
- Weight
- 18 KB
- Volume
- 348
- Category
- Article
- ISSN
- 0140-6736
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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
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