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 autophosphorylation and tyrosine kinase activity were reduced in partially purified insulin receptors from Epstein-Barr...
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