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Clinical features and genetic characteristics of homozygous spinocerebellar ataxia type 3
BACKGROUND: 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. METHODS: We analyzed seven newly homozy...
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| Vydáno v: | Mol Genet Genomic Med |
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| Hlavní autoři: | , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
John Wiley and Sons Inc.
2020
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7507100/ https://ncbi.nlm.nih.gov/pubmed/32643267 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1314 |
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