Article
Detection of mutations in the insulin receptor gene in patients with insulin resistance by analysis of single-stranded conformational polymorphisms.
Diabetologia - 1 Mar 1992
Kim H, Kadowaki H, Sakura H, Odawara M, Momomura K, Takahashi Y, Miyazaki Y, Ohtani T, Akanuma Y, Yazaki Y
Abstract excerpt
We analyzed single-stranded conformational polymorphisms to screen for mutations and polymorphisms in the insulin receptor gene in subjects with or without insulin resistance. Using this new technique, we demonstrated the existence of mutations in the insulin receptor gene which we had identified previously. In addition, a new mutation was found in exon 20 of the insulin receptor gene in a patient with moderate...
Topics
- Amino Acid Sequence
- Base Sequence
- Cell Line, Transformed
- DNA
- DNA, Single-Stranded
- Diabetes Mellitus, Type 2
- Exons
- Humans
- Hyperinsulinism
- Insulin Resistance
- Molecular Sequence Data