Article
Autosomal inheritance of diabetes in two families characterized by obesity and a novel H241Q mutation in NEUROD1.
Pediatric diabetes - 1 Aug 2008
Gonsorcíková Lucie, Průhová Stepánka, Cinek Ondrej, Ek Jakob, Pelikánová Terezie, Jørgensen Torben, Eiberg Hans, Pedersen Oluf, Hansen Torben, Lebl Jan
Abstract excerpt
BACKGROUND: The aim of the study was to search for mutations in the NEUROD1 and IPF-1 genes in patients with clinical characteristics of maturity-onset diabetes of the young (MODY) but with no mutations in the HNF-4A (MODY1), GCK (MODY2) and TCF1 (MODY3) genes. METHODS: We studied 30 unrelated Czech probands with a clinical diagnosis of MODY (median age at testing, 18 yr; median age at the recognition of...
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