Ontology highlight
ABSTRACT:
SUBMITTER: Bonnefond A
PROVIDER: S-EPMC2964316 | biostudies-literature | 2010 Oct
REPOSITORIES: biostudies-literature
Bonnefond Amélie A Durand Emmanuelle E Sand Olivier O De Graeve Franck F Gallina Sophie S Busiah Kanetee K Lobbens Stéphane S Simon Albane A Bellanné-Chantelot Christine C Létourneau Louis L Scharfmann Raphael R Delplanque Jérôme J Sladek Robert R Polak Michel M Vaxillaire Martine M Froguel Philippe P
PloS one 20101026 10
<h4>Background</h4>Accurate molecular diagnosis of monogenic non-autoimmune neonatal diabetes mellitus (NDM) is critical for patient care, as patients carrying a mutation in KCNJ11 or ABCC8 can be treated by oral sulfonylurea drugs instead of insulin therapy. This diagnosis is currently based on Sanger sequencing of at least 42 PCR fragments from the KCNJ11, ABCC8, and INS genes. Here, we assessed the feasibility of using the next-generation whole exome sequencing (WES) for the NDM molecular dia ...[more]