Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy

At least 15% of the disease-causing mutations affect mRNA splicing. Many splicing mutations are missed in a clinical setting due to limitations of in silico prediction algorithms or their location in noncoding regions. Whole-transcriptome sequencing is a promising new tool to identify these mutation...

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Veröffentlicht in:Hum Mutat
Hauptverfasser: Kernohan, Kristin D., Frésard, Laure, Zappala, Zachary, Hartley, Taila, Smith, Kevin S., Wagner, Justin, Xu, Hongbin, McBride, Arran, Bourque, Pierre R., Bennett, Steffany A. L., Dyment, David A., Boycott, Kym M., Montgomery, Stephen B., Chardon, Jodi Warman
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2017
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5889109/
https://ncbi.nlm.nih.gov/pubmed/28251733
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23211
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