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Comparison of expanded CAG repeat tracts in sperm and lymphocyte DNA from Machado Joseph disease and spinocerebellar ataxia type I patients

✍ Scribed by Debra J. Maurer; Kellie A. Benzow; Lawrence J. Schut; Laura P.J. Ranum; Dennis M. Livingston


Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
354 KB
Volume
11
Category
Article
ISSN
1059-7794

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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