Founder effect in the Horn of Africa for an insulin receptor mutation that may impair receptor recycling
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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.
Originalsprog | Engelsk |
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Tidsskrift | Diabetologica |
Vol/bind | 54 |
Udgave nummer | 5 |
Sider (fra-til) | 1057-65 |
Antal sider | 9 |
ISSN | 1432-0428 |
DOI | |
Status | Udgivet - 1 maj 2011 |
ID: 33883556