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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Vydáno v:Hum Mutat
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Blackwell Publishing Ltd 2014
Témata:
Brief Reports
On-line přístup: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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