Article
Substitution of Leu for Pro-193 in the insulin receptor in a patient with a genetic form of severe insulin resistance.
Human molecular genetics - 1 Sept 1993
Carrera P, Cordera R, Ferrari M, Cremonesi L, Taramelli R, Andraghetti G, Carducci C, Dozio N, Pozza G, Taylor S I
Abstract excerpt
Mutations have been identified in the insulin receptor (IR) gene in patients who are insensitive to insulin action. We studied an extremely insulin resistant patient whose insulin binding to Epstein-Barr virus (EBV) transformed lymphocytes was severely reduced. Transmembrane signalling, evaluated...
Topics
- Alleles
- Amino Acid Sequence
- Antibodies, Monoclonal
- Base Sequence
- DNA
- Female
- Humans
- Insulin Resistance
- Male
- Molecular Sequence Data
- Nucleic Acid Hybridization
- Pedigree
- Phenotype
- Point Mutation
- RNA, Messenger
- Receptor, Insulin