Article
Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome.
PloS one - 26 Oct 2010
Bonnefond Amélie, Durand Emmanuelle, Sand Olivier, De Graeve Franck, Gallina Sophie, Busiah Kanetee, Lobbens Stéphane, Simon Albane, Bellanné-Chantelot Christine, Létourneau Louis, Scharfmann Raphael, Delplanque Jérôme, Sladek Robert, Polak Michel, Vaxillaire Martine, Froguel Philippe
Abstract excerpt
BACKGROUND: 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...
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