Exome Sequencing as a Diagnostic Tool for Pediatric-Onset Ataxia

Ataxia demonstrates substantial phenotypic and genetic heterogeneity. We set out to determine the diagnostic yield of exome sequencing in pediatric patients with ataxia without a molecular diagnosis after standard-of-care assessment in Canada. FORGE (Finding Of Rare disease GEnes) Canada is a nation...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Sawyer, Sarah L, Schwartzentruber, Jeremy, Beaulieu, Chandree L, Dyment, David, Smith, Amanda, Chardon, Jodi Warman, Yoon, Grace, Rouleau, Guy A, Suchowersky, Oksana, Siu, Victoria, Murphy, Lisa, Hegele, Robert A, Marshall, Christian R, Bulman, Dennis E, Majewski, Jacek, Tarnopolsky, Mark, Boycott, Kym M
Formato: Artigo
Idioma:Inglês
Publicado em: Blackwell Publishing Ltd 2014
Assuntos:
Brief Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4255313/
https://ncbi.nlm.nih.gov/pubmed/24108619
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22451
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