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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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Библиографические подробности
Опубликовано в: :Brain
Главные авторы: Pyle, Angela, Smertenko, Tania, Bargiela, David, Griffin, Helen, Duff, Jennifer, Appleton, Marie, Douroudis, Konstantinos, Pfeffer, Gerald, Santibanez-Koref, Mauro, Eglon, Gail, Yu-Wai-Man, Patrick, Ramesh, Venkateswaran, Horvath, Rita, Chinnery, Patrick F.
Формат: Artigo
Язык:Inglês
Опубликовано: Oxford University Press 2015
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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