Articles with "homozygous spinocerebellar" as a keyword



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Clinical features and genetic characteristics of homozygous spinocerebellar ataxia type 3

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Published in 2020 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.1314

Abstract: Homozygous spinocerebellar ataxia type 3 (SCA3) patients, which have an expanded cytosine‐adenine‐guanine (CAG) repeat mutation in both alleles of ATXN3, are extremely rare. Clinical features and genetic characteristics of them were seldom studied. read more here.

Keywords: ataxia type; spinocerebellar ataxia; clinical features; genetic characteristics ... See more keywords