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    Gametic and somatic tissue–specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1

    Spinocerebellar ataxia type 1 is associated with expansion of an unstable CAG repeat within the SCA1 gene. Male gametic heterogeneity of the expanded repeat is demonstrated using single sperm and low–copy genome ...

    Samuel S. Chong, Alanna E. McCall, Juan Cota, S.H. Subramony… in Nature Genetics (1995)