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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2015
Materias:
Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4306819/
https://www.ncbi.nlm.nih.gov/pubmed/25497598
http://dx.doi.org/10.1093/brain/awu348

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4306819/
https://www.ncbi.nlm.nih.gov/pubmed/25497598
http://dx.doi.org/10.1093/brain/awu348

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