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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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| Asıl Yazarlar: | , , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
BioMed Central
2014
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| 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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