Article
Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes.
Nature genetics - 1 Oct 1992
Stoffel M, Patel P, Lo Y M, Hattersley A T, Lucassen A M, Page R, Bell J I, Bell G I, Turner R C, Wainscoat J S
Abstract excerpt
We describe a codon 299 mutation in the glucokinase gene in a British pedigree with maturity-onset diabetes of the young (MODY) resulting in a substitution of glycine to arginine. One out of fifty patients diagnosed with classical late-onset type 2 diabetes mellitus was also found to have this mutation. All nine relatives of this patient who have inherited the mutation have type 2 diabetes, although six others...
Topics
- Adolescent
- Adult
- Aged
- Base Sequence
- Child
- DNA
- DNA Mutational Analysis
- Diabetes Mellitus, Type 2
- Exons
- Female
- Glucokinase
- Humans