Article
A naturally occurring mutation of insulin receptor alanine 1134 impairs tyrosine kinase function and is associated with dominantly inherited insulin resistance.
The Journal of biological chemistry - 5 Sept 1990
Moller D E, Yokota A, White M F, Pazianos A G, Flier J S
Abstract excerpt
We have identified a previously undescribed genetic variant of the insulin receptor (Ala1134----Thr1134) in a family with the Type A syndrome of insulin resistance. Using the polymerase chain reaction to amplify insulin receptor cDNA and genomic DNA (exon 19), this mutation was detected in 1/2 al...
Topics
- Adolescent
- Alanine
- Animals
- Base Sequence
- Cell Line
- DNA
- Female
- Genes, Dominant
- Humans
- Insulin
- Insulin Resistance
- Kinetics
- Male
- Molecular Sequence Data
- Mutation
- Oligonucleotide Probes
- Pedigree
- Polymerase Chain Reaction