Mutations in the insulin receptor gene in patients with genetic syndromes of insulin resistance and acanthosis nigricans.

doi:10.1111/1523-1747.ep12462281

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Article

Mutations in the insulin receptor gene in patients with genetic syndromes of insulin resistance and acanthosis nigricans.

The Journal of investigative dermatology - 1 Jun 1992

Accili D, Barbetti F, Cama A, Kadowaki H, Kadowaki T, Imano E, Levy-Toledano R, Taylor S I

Abstract excerpt

Mutations of the insulin receptor gene have been identified in patients with genetic syndromes of insulin resistance associated with acanthosis nigricans. These mutations impair insulin responses by reducing the number of insulin receptors on the surface of target cells, or by reducing the recept...

Topics

Acanthosis Nigricans
Humans
Insulin Resistance
Mutation
Receptor, Insulin
Syndrome

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