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A single amino acid substitution in the exoplasmic domain of the human growth hormone (GH) receptor confers familial GH resistance (Laron syndrome) with positive GH-binding activity by abolishing receptor homodimerization.

Growth hormone (GH) elicits a variety of biological activities mainly mediated by the GH receptor (GHR), a transmembrane protein that, based on in vitro studies, seemed to function as a homodimer. To test this hypothesis directly, we investigated patients displaying the classic features of Laron syn...

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Udgivet i:EMBO J
Principais autores: Duquesnoy, P, Sobrier, M L, Duriez, B, Dastot, F, Buchanan, C R, Savage, M O, Preece, M A, Craescu, C T, Blouquit, Y, Goossens, M
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 1994
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC394956/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8137822/
https://ncbi.nlm.nih.govhttps://doi.org/10.1002/j.1460-2075.1994.tb06392.x
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