Clinical and functional characterization of a novel STUB1 frameshift mutation in autosomal dominant spinocerebellar ataxia type 48 (SCA48)

BACKGROUND: Heterozygous pathogenic variants in STUB1 are implicated in autosomal dominant spinocerebellar ataxia type 48 (SCA48), which is a rare familial ataxia disorder. We investigated the clinical, genetic and functional characteristics of STUB1 mutations identified from a Taiwanese ataxia coho...

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Detalles Bibliográficos
Autores principales: Chen, Huan-Yun, Hsu, Chia-Lang, Lin, Han-Yi, Lin, Yung-Feng, Tsai, Shih-Feng, Ho, Yu-Jung, Li, Ye-Ru, Tsai, Jin-Wu, Teng, Shu-Chun, Lin, Chin-Hsien
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8466936/
https://www.ncbi.nlm.nih.gov/pubmed/34565360
http://dx.doi.org/10.1186/s12929-021-00763-1

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