Article
Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation.
American journal of human genetics - 10 Jan 2013
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
Abstract excerpt
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 has extended clinical diagnostic testing from analysis of fewer than ten genes per phenotype to more than 100....
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