Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient

BACKGROUND: Spinocerebellar ataxias (SCAs) are heterogeneous diseases characterized by progressive cerebellar ataxia associated with dysarthria, oculomotor abnormalities, and mental impairment. To identify the causative gene, we performed exome sequencing on a Japanese patient clinically diagnosed w...

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Detalles Bibliográficos
Autores principales: Morino, Hiroyuki, Miyamoto, Ryosuke, Ohnishi, Shizuo, Maruyama, Hirofumi, Kawakami, Hideshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3890717/
https://www.ncbi.nlm.nih.gov/pubmed/24397319
http://dx.doi.org/10.1186/1471-2377-14-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3890717/
https://www.ncbi.nlm.nih.gov/pubmed/24397319
http://dx.doi.org/10.1186/1471-2377-14-5

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