Article
Human glucokinase gene: isolation, characterization, and identification of two missense mutations linked to early-onset non-insulin-dependent (type 2) diabetes mellitus.
Proceedings of the National Academy of Sciences of the United States of America - 15 Aug 1992
Stoffel M, Froguel P, Takeda J, Zouali H, Vionnet N, Nishi S, Weber I T, Harrison R W, Pilkis S J, Lesage S
Abstract excerpt
DNA polymorphisms in the glucokinase gene have recently been shown to be tightly linked to early-onset non-insulin-dependent diabetes mellitus in approximately 80% of French families with this form of diabetes. We previously identified a nonsense mutation in exon 7 in one of these families and showed that it was the likely cause of glucose intolerance in this dominantly inherited disorder. Here we report the...
Topics
- Adult
- Age Factors
- Amino Acid Sequence
- Base Sequence
- Child
- DNA
- Diabetes Mellitus, Type 2
- Exons
- Family
- Female
- Genomic Library