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Relationship of (CAG)nC configuration to repeat instability of the Machado-Joseph disease gene

✍ Scribed by R. Matsumura; Tetsuya Takayanagi; Kayoko Murata; Naonobu Futamura; Makito Hirano; Satoshi Ueno


Publisher
Springer
Year
1996
Tongue
English
Weight
31 KB
Volume
98
Category
Article
ISSN
0340-6717

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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