Article
Functional properties of a heterozygous mutation (Arg1174-->Gln) in the tyrosine kinase domain of the insulin receptor from a type A insulin resistant patient.
FEBS letters - 5 Sept 1994
Moritz W, Froesch E R, Böni-Schnetzler M
Abstract excerpt
We analysed the biochemical properties of insulin receptors of a Type A insulin resistant patient with a single heterozygous point mutation substituting Gln for Arg1174. Insulin binding capacity and affinity to Epstein-Barr virus transformed lymphocytes was normal. Quantitative analysis of autoph...
Topics
- Adult
- Amino Acid Sequence
- Arginine
- Base Sequence
- Cell Line, Transformed
- Cell Transformation, Viral
- Diabetes Mellitus, Type 2
- Down-Regulation
- Female
- Glutamine
- Heterozygote
- Humans
- Insulin
- Lymphocytes
- Molecular Sequence Data
- Mutation
- Receptor Protein-Tyrosine Kinases
- Receptor, Insulin