Analysis of the intracellular signalling domain of the human growth hormone receptor in children with idiopathic short stature
Johnston L, Pashankar F, Camacho‐Hübner C, Savage M, Clark A. Analysis of the intracellular signalling domain of the human growth hormone receptor in children with idiopathic short stature. Clinical Endocrinology 2000, 52: 463-469. PMID: 10762289, DOI: 10.1046/j.1365-2265.2000.00940.x.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentCarrier ProteinsChildChild, PreschoolElectrophoresisExonsFemaleGrowth DisordersGrowth HormoneHumansInsulin-Like Growth Factor Binding Protein 3Insulin-Like Growth Factor IMaleMutationPolymerase Chain ReactionReceptors, SomatotropinSequence Analysis, DNAConceptsGrowth hormone insensitivityIdiopathic short staturePartial growth hormone insensitivityGrowth hormone receptorHormone insensitivityShort statureSerum IGF-I levelsHormone receptorsShort stature subjectsIGF-I levelsGH provocation testsProvocation testExon 9GH deficiencyControl populationCodon 325Protein levelsAmino acid changesPatientsHuman growth hormone receptorCentileDominant-negative variantChildrenSubjectsDominant negative mutation