Somatic mosaicism of the CAG repeat expa
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GΓ©raldine Cancel; Isabelle Gourfinkel-An; Giovanni Stevanin; Olivier Didierjean;
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Article
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1998
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John Wiley and Sons
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English
β 159 KB
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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