Founder effect in the Horn of Africa for an insulin receptor mutation that may impair receptor recycling

AIMS/HYPOTHESIS: 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 possib...

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Detalles Bibliográficos
Autores principales: Raffan, E., Soos, M. A., Rocha, N., Tuthill, A., Thomsen, A. R., Hyden, C. S., Gregory, J. W., Hindmarsh, P., Dattani, M., Cochran, E., Al Kaabi, J., Gorden, P., Barroso, I., Morling, N., O’Rahilly, S., Semple, R. K.
Formato: Texto
Lenguaje:English
Publicado: Springer-Verlag 2011
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3071941/
https://www.ncbi.nlm.nih.gov/pubmed/21318406
http://dx.doi.org/10.1007/s00125-011-2066-z

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