Article
Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes of severe insulin resistance.
The Journal of clinical endocrinology and metabolism - 1 Sept 2003
Maassen J Antonie, Tobias Edward S, Kayserilli Hülya, Tukel Turgut, Yuksel-Apak Memnune, D'Haens Esther, Kleijer Wim J, Féry Francoise, van der Zon Gerard C M
Abstract excerpt
We analyzed the insulin receptor gene in four patients with leprechaunism and one with type A insulin resistance. We detected novel and previously reported mutations. The novel mutants were expressed in Chinese hamster ovary cells to evaluate the consequences for insulin receptor function. A type A insulin resistance patient from Morocco was homozygous for Arg252His mutation, similar to a previously described...
Topics
- Adolescent
- Animals
- Blotting, Western
- CHO Cells
- Cells, Cultured
- Codon, Nonsense
- Cricetinae
- DNA
- Female
- Fibroblasts
- Humans
- Hypoglycemic Agents
- Infant