Article
Identification of three novel mutations in the insulin receptor gene in type A insulin resistant patients.
Clinical genetics - 1 Jan 2000
Riqué S, Nogués C, Ibàñez L, Marcos M V, Ferragut J, Carrascosa A, Potau N
Abstract excerpt
Type A insulin resistance syndrome is characterized by the association of ovarian hyperandrogenism, acanthosis nigricans, and severe insulin resistance. We have identified three novel mutant alleles of the insulin receptor gene in 3 patients with type A syndrome, a severe form of insulin resistance. Two of the patients were sisters (A1, A2), 1 of them was a compound heterozygote for a mutation at the 3'-splice...
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