Article
Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance.
The Journal of clinical investigation - 1 Jul 1990
Kadowaki T, Kadowaki H, Rechler M M, Serrano-Rios M, Roth J, Gorden P, Taylor S I
Abstract excerpt
The nucleotide sequence was determined for all 22 exons of the insulin receptor gene from three patients with genetic syndromes associated with extreme insulin resistance. In all three patients, insulin resistance was caused by decreased insulin binding to the cell surface. The patient with lepre...
Topics
- Adult
- Alleles
- Amino Acid Sequence
- Base Sequence
- Gene Expression
- Humans
- Insulin Resistance
- Molecular Sequence Data
- Mutation
- Oligonucleotide Probes
- Oligonucleotides
- Polymerase Chain Reaction
- Polymorphism, Genetic
- RNA, Messenger
- Receptor, Insulin