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Exome sequencing in undiagnosed inherited and sporadic ataxias
Inherited ataxias are clinically and genetically heterogeneous, and a molecular diagnosis is not possible in most patients. Having excluded common sporadic, inherited and metabolic causes, we used an unbiased whole exome sequencing approach in 35 affected individuals, from 22 randomly selected famil...
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Опубликовано в: : | Brain |
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Главные авторы: | , , , , , , , , , , , , , |
Формат: | Artigo |
Язык: | Inglês |
Опубликовано: |
Oxford University Press
2015
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Предметы: | |
Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4306819/ https://ncbi.nlm.nih.gov/pubmed/25497598 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awu348 |
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