Spinocerebellar Ataxia type 29 in a family of Māori descent

BACKGROUND: Mutations in the Inositol 1,4,5-Trisphosphate Receptor Type 1 (ITPR1) gene cause spinocerebellar ataxia type 29 (SCA29), a rare congenital-onset autosomal dominant non-progressive cerebellar ataxia. The Māori, indigenous to New Zealand, are an understudied population for genetic ataxias....

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Detalles Bibliográficos
Autores principales: Ngo, Kathie J., Poke, Gemma, Neas, Katherine, Fogel, Brent L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6790028/
https://www.ncbi.nlm.nih.gov/pubmed/31632679
http://dx.doi.org/10.1186/s40673-019-0108-3

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