Article
A glycine-1008 to valine mutation in the insulin receptor in a woman with type A insulin resistance.
The Journal of clinical endocrinology and metabolism - 1 Jul 1993
Nozaki O, Suzuki Y, Shimada F, Hashimoto N, Taira M, Hatanaka Y, Notoya Y, Kanashiro O, Makino H, Yoshida S
Abstract excerpt
We examined the insulin receptor gene in a Japanese woman with type A insulin resistance. Acanthosis nigricans and polycystic ovary were present. A 75-g oral glucose tolerance test showed a diabetic pattern, and fasting insulinemia was 780 pmol/L. Insulin binding was normal, but autophosphorylati...
Topics
- Adult
- Female
- Glucose Tolerance Test
- Glycine
- Humans
- Insulin
- Insulin Resistance
- Japan
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Protein-Tyrosine Kinases
- Receptor, Insulin
- Valine