Individuals with only one allele for a functional insulin receptor have a tendency to hyperinsulinaemia but not to hyperglycaemia

@article{Deprez1989IndividualsWO,
  title={Individuals with only one allele for a functional insulin receptor have a tendency to hyperinsulinaemia but not to hyperglycaemia},
  author={Ronald H. Lekanne dit Deprez and B. J. Potter van Loon and G. C. M. van der Zon and Wim M{\"o}ller and Dick Lindhout and M. P. Klinkhamer and H. M. J. Krans and Johannes A Maassen},
  journal={Diabetologia},
  year={1989},
  volume={32},
  pages={740-744}
}
Recently, we described a leprechaun patient with a genetically transmitted severe insulin resistance due to the absence of functional insulin receptors as inferred from the loss of insulin binding to the patients' fibroblasts and the impaired autophosphorylation of the β-chain of the receptor. This patient was homozygous for the genetic defect which was recently found to be a leucine to proline mutation at position 233 in the α-chain of the insulin receptor. In the present study we have… CONTINUE READING

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