A leucine-to-proline mutation in the insulin receptor in a family with insulin resistance.

We have determined the primary structure of a mutant insulin receptor of a leprechaun patient born from a consanguineous marriage. A characteristic feature of leprechaunism is an extreme resistance to insulin. In this patient the insulin resistance seems to result from an observed lack of insulin bi...

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Pubblicato in:	EMBO J
Autori principali:	Klinkhamer, M P, Groen, N A, van der Zon, G C, Lindhout, D, Sandkuyl, L A, Krans, H M, Möller, W, Maassen, J A
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Nature Publishing Group 1989
Soggetti:	Research Article
Accesso online:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC401243/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2479553/ https://ncbi.nlm.nih.govhttps://doi.org/10.1002/j.1460-2075.1989.tb08387.x
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