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Science 7 July 1989:
Vol. 245. no. 4913, pp. 66 - 68
DOI: 10.1126/science.2544998
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Articles

Science, Vol 245, Issue 4913, 66-68
Copyright © 1989 by American Association for the Advancement of Science

articles

Human diabetes associated with a mutation in the tyrosine kinase domain of the insulin receptor

M Odawara, T Kadowaki, R Yamamoto, Y Shibasaki, K Tobe, D Accili, C Bevins, Y Mikami, N Matsuura, Y Akanuma, and al. et

Third Department of Internal Medicine, Faculty of Medicine, University of Tokyo, Japan.

Insulin receptor complementary DNA has been cloned from an insulin-resistant individual whose receptors have impaired tyrosine protein kinase activity. One of this individual's alleles has a mutation in which valine is substituted for Gly996, the third glycine in the conserved Gly-X-Gly-X-X-Gly motif in the putative binding site fo adenosine triphosphate. Expression of the mutant receptor by transfection into Chinese hamster ovary cells confirmed that the mutation impairs tyrosine kinase activity.


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