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Unique features of the CAG repeats in Machado–Joseph disease

✍ Scribed by Kawakami, Hideshi; Maruyama, Hirofumi; Nakamura, Shigenobu; Kawaguchi, Yoshiya; Kakizuka, Akira; Doyu, Manabu; Sobue, Gen


Book ID
109915695
Publisher
Nature Publishing Group
Year
1995
Tongue
English
Weight
178 KB
Volume
9
Category
Article
ISSN
1061-4036

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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