Whole-exome sequencing identifies the first French MODY 6 family with a new mutation in the NEUROD1 gene.

Date publication

mars 2020

Journal

Diabetes & metabolism

Auteurs

Membres identifiés du Cancéropôle Est :
Pr CALLIER Patrick , Pr PETIT Jean-Michel , Pr VERGES Bruno

Tous les auteurs :
Bouillet B, Crevisy E, Baillot-Rudoni S, Gallegarine D, Jouan T, Duffourd Y, Petit JM, Vergès B, Callier P

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/32184107

Résumé

The aim of the present study was to identify the affected gene in a French family with maturity-onset diabetes of the young (MODY) using whole-exome sequencing (WES).

Mots clés

MODY 6, Mutation, NEUROD1 gene, Whole-exome sequencing

Référence

Diabetes Metab.. 2020 Mar 14;: