Whole-Exome Sequencing and High Throughput Genotyping Identified KCNJ11 as the Thirteenth MODY Gene

BACKGROUND: Maturity-onset of the young (MODY) is a clinically heterogeneous form of diabetes characterized by an autosomal-dominant mode of inheritance, an onset before the age of 25 years, and a primary defect in the pancreatic beta-cell function. Approximately 30% of MODY families remain genetica...

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Detalles Bibliográficos
Autores principales: Bonnefond, Amélie, Philippe, Julien, Durand, Emmanuelle, Dechaume, Aurélie, Huyvaert, Marlène, Montagne, Louise, Marre, Michel, Balkau, Beverley, Fajardy, Isabelle, Vambergue, Anne, Vatin, Vincent, Delplanque, Jérôme, Le Guilcher, David, De Graeve, Franck, Lecoeur, Cécile, Sand, Olivier, Vaxillaire, Martine, Froguel, Philippe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3372463/
https://www.ncbi.nlm.nih.gov/pubmed/22701567
http://dx.doi.org/10.1371/journal.pone.0037423

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