Novel frameshift mutation in the SACS gene causing spastic ataxia of charlevoix-saguenay in a consanguineous family from the Arabian Peninsula: A case report and review of literature

BACKGROUND: Familial cases of autosomal recessive spastic ataxia of charlevoix-saguenay have not been reported in the Arabian Peninsula, although the consanguineous marriage rate is very high. We report the first family from the Arabian Peninsula harboring a novel frameshift mutation in the SACS gen...

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Detalles Bibliográficos
Autores principales: Al-Ajmi, Abdullah, Shamsah, Sarah, Janicijevic, Aleksandar, Williams, Michayla, Al-Mulla, Fahd
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7190960/
https://www.ncbi.nlm.nih.gov/pubmed/32368540
http://dx.doi.org/10.12998/wjcc.v8.i8.1477

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