Article
Two aberrant splicings caused by mutations in the insulin receptor gene in cultured lymphocytes from a patient with Rabson-Mendenhall's syndrome.
The Journal of clinical investigation - 1 Feb 1998
Takahashi Y, Kadowaki H, Ando A, Quin J D, MacCuish A C, Yazaki Y, Akanuma Y, Kadowaki T
Abstract excerpt
Rabson-Mendenhall's syndrome is one of the most severe forms of insulin resistance syndrome. We analyzed an English patient described elsewhere and found novel mutations in both alleles of the insulin receptor gene. One is a substitution of G for A at the 3' splice acceptor site of intron 4, and the other is an eight-base pair deletion in exon 12. Both decrease mRNA expression in a cis-dominant manner, and are...
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