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A Novel Missense Mutation in the Spectrin Beta Nonerythrocytic 2 Gene Likely Associated with Spinocerebellar Ataxia Type 5

A Novel Missense Mutation in the Spectrin Beta Nonerythrocytic 2 Gene Likely Associated with Spinocerebellar Ataxia Type 5
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摘要 To the Editor:Spinocerebellar ataxia type 5 (SCA5) is a rare autosomal dominant spinocerebellar ataxia.Mutations in the spectrin beta nonerythrocytic 2 gene (SPTBN2) are known to cause SCA5,six of which have been reported,including three missense mutations and three deletion mutations. To the Editor:Spinocerebellar ataxia type 5 (SCA5) is a rare autosomal dominant spinocerebellar ataxia.Mutations in the spectrin beta nonerythrocytic 2 gene (SPTBN2) are known to cause SCA5,six of which have been reported,including three missense mutations and three deletion mutations.
出处 《Chinese Medical Journal》 SCIE CAS CSCD 2016年第20期2516-2517,共2页 中华医学杂志(英文版)
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