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Molecular features of the CAG repeats and clinical manifestation of Machado--Joseph disease

✍ Scribed by Maruyama, H.; Nakamura, S.; Matsuyama, Z.; Sakai, T.; Doyu, M.; Sobue, G.; Seto, M.; Tsujihata, M.; Oh-i, T.; Nishio, T.; Sunohara, N.; Takahashi, R.; Hayashi, M.; Nishino, I.; Ohtake, T.; Oda, T.; Nishimura, M.; Saida, T.; Matsumoto, H.; Baba, M.; Kawaguchi, Y.; Kakizuka, A.; Kawakami, H.


Book ID
121423809
Publisher
Oxford University Press
Year
1995
Tongue
English
Weight
632 KB
Volume
4
Category
Article
ISSN
0964-6906

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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