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Unstable FGF14 GAA repeat expansions in Indian ataxia patients: a broader phenotype and involvement of modifier loci?

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Spinocerebellar ataxia (SCA27B), due to an intronic GAA repeat expansion in the FGF14 gene, has been described recently. We screened DNA samples for expanded FGF14 GAA repeats in individuals with movement disorder (N = 526) in our laboratory at NIMHANS, Bengal... ...