Exome Sequencing Identifies a Novel Sorting Nexin 14 Gene Mutation Causing Cerebellar Atrophy and Intellectual Disability

The autosomal recessive cerebellar ataxias (ARCA) affect both the central and the peripheral nervous systems. They are also characterized by a relatively high level of genetic heterogeneity with well over 40 genes already implicated. The present study aimed to identify the gene mutation responsible...

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Detalles Bibliográficos
Autores principales: Al-Hashmi, Nadia, Mohammed, Mohammed, Al-Kathir, Salim, Al-Yarubi, Naeema, Scott, Patrick
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6220403/
https://www.ncbi.nlm.nih.gov/pubmed/30473892
http://dx.doi.org/10.1155/2018/6737938

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6220403/
https://www.ncbi.nlm.nih.gov/pubmed/30473892
http://dx.doi.org/10.1155/2018/6737938

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