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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… Click to show full 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.
Keywords:
ataxia type;
spinocerebellar ataxia;
clinical features;
genetic characteristics;
features genetic;
homozygous spinocerebellar
Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2020
Link to full text (if available)
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Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2020
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!