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    Relationship of (CAG)nC configuration to repeat instability of the Machado-Joseph disease gene

    The mutation responsible for Machado-Joseph disease (MJD) has been identified as an expansion of a CAG trinucleotide repeat in a novel gene on chromosome 14q32.1. The CAG repeat tract is followed by C or G, a...

    R. Matsumura, Tetsuya Takayanagi, Kayoko Murata, Naonobu Futamura… in Human Genetics (1996)