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Molecular characterization of a novel p.R118C mutation in the insulin receptor gene from patients with severe insulin resistance

15

Citations

37

References

2011

Year

Abstract

Biallelic c.433 C>T (p.R118C) mutation of INSR causes significant damage to insulin binding and insulin-mediated signal transduction. p.R118C is a founder mutation frequently present in the Saudi patients with severe insulin resistance.

References

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