Next-Generation Sequencing Reveals Deep Intronic Cryptic ABCC8 and HADH Splicing Founder Mutations Causing Hyperinsulinism by Pseudoexon Activation

Next-generation sequencing (NGS) enables analysis of the human genome on a scale previously unachievable by Sanger sequencing. Exome sequencing of the coding regions and conserved splice sites has been very successful in the identification of disease-causing mutations, and targeting of these regions...

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Main Authors: Flanagan, Sarah E., Xie, Weijia, Caswell, Richard, Damhuis, Annet, Vianey-Saban, Christine, Akcay, Teoman, Darendeliler, Feyza, Bas, Firdevs, Guven, Ayla, Siklar, Zeynep, Ocal, Gonul, Berberoglu, Merih, Murphy, Nuala, O’Sullivan, Maureen, Green, Andrew, Clayton, Peter E., Banerjee, Indraneel, Clayton, Peter T., Hussain, Khalid, Weedon, Michael N., Ellard, Sian
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2013
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3542457/
https://ncbi.nlm.nih.gov/pubmed/23273570
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.11.017
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