Whole-Exome Sequencing and High Throughput Genotyping Identified KCNJ11 as the Thirteenth MODY Gene
Whole-Exome Sequencing and High Throughput Genotyping Identified KCNJ11 as the Thirteenth MODY Gene
About this item
Full title
Author / Creator
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 and Froguel, Philippe
Publisher
United States: Public Library of Science
Journal title
Language
English
Formats
Publication information
Publisher
United States: Public Library of Science
Subjects
More information
Scope and Contents
Contents
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 genetically unexplained (MODY-X). Here, we aimed to use whole-exome se...
Alternative Titles
Full title
Whole-Exome Sequencing and High Throughput Genotyping Identified KCNJ11 as the Thirteenth MODY Gene
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_plos_journals_1325026917
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1325026917
Other Identifiers
ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0037423
