Molecular Diagnosis of Neonatal Diabetes Mellitus Using Next-Generation Sequencing of the Whole Exome

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 seq...

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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2010
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2964316/
https://ncbi.nlm.nih.gov/pubmed/21049026
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0013630
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