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 fea...
Topics
- Adult
- Aged
- Aged, 80 and over
- Alleles
- Child
- Child, Preschool
- Codon
- Diabetes Mellitus, Type 2
- Female
- Glucokinase
- Humans
- Hyperglycemia
- Male
- Middle Aged
- Mutation, Missense
- Norway
- Pedigree
- Polymerase Chain Reaction
