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Article

Evaluation of the biological activity of a growth hormone (GH) mutant (R77C) and its impact on GH responsiveness and stature.

The Journal of clinical endocrinology and metabolism - 1 Aug 2007

Petkovic Vibor, Besson Amélie, Thevis Mario, Lochmatter Didier, Eblé Andrée, Flück Christa E, Mullis Primus E

Abstract excerpt

CONTEXT AND OBJECTIVE: A single missense mutation in the GH-1 gene converting codon 77 from arginine (R) to cysteine (C) yields a mutant GH-R77C peptide, which was described as natural GH antagonist. DESIGN, SETTING, AND PATIENTS: Heterozygosity for GH-R77C/wt-GH was identified in a Syrian family. The index patient, a boy, was referred for assessment of his short stature (-2.5 SD score) and partial GH...

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Source

Identifiers

PMID: 17519310
DOI: 10.1210/jc.2006-2238

Genes

GHR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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