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Hispanic Spinocerebellar Ataxia type 35 (SCA35) with a Novel Frameshift Mutation
Genetic mutations in transglutaminase 6 (TGM6) are recently identified to be associated with spinocerebellar ataxia type 35 (SCA35). We report a Hispanic SCA35 patient, who was confirmed to have a heterozygous, single-nucleotide deletion in TGM6, causing a frameshift mutation with a premature stop c...
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| Publicado no: | Cerebellum |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6544358/ https://ncbi.nlm.nih.gov/pubmed/30229425 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12311-018-0978-6 |
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