Founder effect in the Horn of Africa for an insulin receptor mutation that may impair receptor recycling
Research output: Contribution to journal › Journal article › Research › peer-review
Genetic insulin receptoropathies are a rare cause of severe insulin resistance. We identified the Ile119Met missense mutation in the insulin receptor INSR gene, previously reported in a Yemeni kindred, in four unrelated patients with Somali ancestry. We aimed to investigate a possible genetic founder effect, and to study the mechanism of loss of function of the mutant receptor.
| Original language | English |
|---|---|
| Journal | Diabetologica |
| Volume | 54 |
| Issue number | 5 |
| Pages (from-to) | 1057-65 |
| Number of pages | 9 |
| ISSN | 1432-0428 |
| DOIs | |
| Publication status | Published - 1 May 2011 |
- Adult, Africa, Cells, Cultured, Child, Female, Haplotypes, Humans, Infant, Insulin Resistance, Male, Mutagenesis, Site-Directed, Mutation, Polymerase Chain Reaction, Protein Precursors, Receptor, Insulin, Young Adult
Research areas
ID: 33883556