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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Brain
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2015
Assuntos:
Reports
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados