Article
Insulin-resistant diabetes associated with partial deletion of insulin-receptor gene.
Lancet (London, England) - 19 May 1990
Shimada F, Taira M, Suzuki Y, Hashimoto N, Nozaki O, Taira M, Tatibana M, Ebina Y, Tawata M, Onaya T
Abstract excerpt
The insulin-receptor genes from a 16-year-old girl with type A insulin resistance, who presented with fasting hyperinsulinaemia, acanthosis nigricans, and reduced insulin binding, and from her family were examined. One allele of her insulin-receptor gene inherited from her mother contained a 1.2 kb deletion arising from a recombination between two Alu elements. The deletion removed the 14th exon in the beta...
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