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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Dades bibliogràfiques
Publicat a:Hum Mutat
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Blackwell Publishing Ltd 2014
Matèries:
Brief Reports
Accés en línia: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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