Article
An in-frame insertion in exon 3 and a nonsense mutation in exon 2 of the insulin receptor gene associated with severe insulin resistance in a patient with Rabson-Mendenhall syndrome.
Diabetologia - 1 Nov 1993
Müller-Wieland D, van der Vorm E R, Streicher R, Krone W, Seemanova E, Dreyer M, Rüdiger H W, Rosipal S R, Maassen J A
Abstract excerpt
We have studied the structure and function of the insulin receptor in a patient (PK) with severe insulin resistance and Rabson-Mendenhall syndrome. Insulin binding to cultured fibroblasts from PK was almost not detectable and insulin-induced insulin receptor autophosphorylation and glucose uptake...
Topics
- Amino Acid Sequence
- Base Sequence
- Cells, Cultured
- Child
- DNA Primers
- DNA Transposable Elements
- Exons
- Female
- Fibroblasts
- Humans
- Insulin
- Insulin Resistance
- Kinetics
- Male
- Molecular Sequence Data