Article
A missense mutation, Val62Ala, in the glucokinase gene in a Norwegian family with maturity-onset diabetes of the young.
Acta paediatrica (Oslo, Norway : 1992) - 1 Aug 1998
Njølstad P R, Cockburn B N, Bell G I, Søvik O
Abstract excerpt
Maturity-onset diabetes of the young (MODY) is a form of diabetes mellitus characterized by autosomal dominant inheritance, onset usually before 25 y of age and a primary defect in glucose-stimulated insulin secretion. It is a heterogeneous disorder both with respect to aetiology and clinical features. Mutations in the genes encoding the glycolytic enzyme glucokinase, the liver-enriched transcription factors,...
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