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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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Detaylı Bibliyografya
Asıl Yazarlar: Morino, Hiroyuki, Miyamoto, Ryosuke, Ohnishi, Shizuo, Maruyama, Hirofumi, Kawakami, Hideshi
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2014
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3890717/
https://ncbi.nlm.nih.gov/pubmed/24397319
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2377-14-5
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