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Studies of the CAG repeat in the Machado-Joseph disease gene in Taiwan

✍ Scribed by Mingli Hsieh; Hui-Fang Tsai; Tsong-Ming Lu; Chien-Ying Yang; Hung-Ming Wu; S.-Y. Li


Publisher
Springer
Year
1997
Tongue
English
Weight
123 KB
Volume
100
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