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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Vydáno v:Hum Mutat
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: 2017
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Article
On-line přístup: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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