Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families.

Abstract excerpt

Mutations in glucokinase are associated with defects in insulin secretion and hepatic glycogen synthesis resulting in mild chronic hyperglycaemia, impaired glucose tolerance or diabetes mellitus. We screened members of 35 families with features of maturity-onset diabetes of the young for mutations in the glucokinase gene and found 16 different mutations. They included 14 new mutations in the glucokinase gene: 9...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Mutation
• Share to Adolescent