Article
Four mutant alleles of the insulin receptor gene associated with genetic syndromes of extreme insulin resistance.
Biochemical and biophysical research communications - 28 Aug 1997
Kadowaki H, Takahashi Y, Ando A, Momomura K, Kaburagi Y, Quin J D, MacCuish A C, Koda N, Fukushima Y, Taylor S I, Akanuma Y, Yazaki Y, Kadowaki T
Abstract excerpt
We identified four novel mutant alleles of the insulin receptor gene in three patients with genetic syndromes associated with insulin resistance. Two mutant alleles of the insulin receptor gene were identified in a patient with the Rabson-Mendenhall syndrome who was a compound heterozygote for a mutation at the 3'-splice acceptor site of intron 4 (AG-->GG), the first mutation causing an aberrant splicing at this...
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