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Intrafamilial phenotypic variation in spinocerebellar ataxia type 23
BACKGROUND: Spinocerebellar ataxia type 23 (SCA23) is an autosomal dominant cerebellar ataxia caused by pathogenic variants in the prodynorphin gene (PDYN). The frequency of PDYN variants is reportedly very low (~ 0.1%) in several ataxia cohorts screened to date. CASE PRESENTATIONS: We found five ca...
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| Publicado no: | Cerebellum Ataxias |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7310450/ https://ncbi.nlm.nih.gov/pubmed/32587707 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40673-020-00117-x |
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