Article
Rapid and simultaneous detection of multiple mutations by pooled and multiplex single nucleotide primer extension: application to the study of insulin-responsive glucose transporter and insulin receptor mutations in non-insulin-dependent diabetes.
Human molecular genetics - 1 Sept 1992
Krook A, Stratton I M, O'Rahilly S
Abstract excerpt
The application of molecular scanning techniques to the detection of potentially pathogenic mutations in candidate genes in patients with non-insulin-dependent diabetes has revealed a number of molecular variants of uncertain pathophysiologic significance. The determination of the significance of...
Topics
- Alleles
- Amino Acid Sequence
- Blood Donors
- Diabetes Mellitus, Type 2
- Exons
- Genetic Variation
- Genotype
- Humans
- Insulin Resistance
- Isoleucine
- Middle Aged
- Monosaccharide Transport Proteins
- Mutation
- Oligodeoxyribonucleotides
- Polymerase Chain Reaction