Article
Activation of glucose transport by a natural mutation in the human insulin receptor.
Proceedings of the National Academy of Sciences of the United States of America - 1 Jan 1993
Longo N, Langley S D, Griffin L D, Elsas L J
Abstract excerpt
Naturally occurring mutations in the insulin receptor gene cause heritable severe insulin resistance. These mutations usually impair insulin receptor signaling in cells cultured from affected individuals. However, fibroblasts cultured from a patient with intrauterine growth restriction and severe insulin resistance (leprechaun Atl-1) had normal amounts of insulin receptor protein and defective insulin binding but...
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