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Article

Serum GH response to pharmacological stimuli and physical exercise in two siblings with two new inactivating mutations in the GH-releasing hormone receptor gene.

European journal of endocrinology - 1 Nov 2002

Salvatori Roberto, Fan Xiaoguang, Veldhuis Johannes D, Couch Robert

Abstract excerpt

OBJECTIVE: Inactivating mutations of the GH-releasing hormone receptor (GHRHR) gene (GHRHR) cause familial isolated GH deficiency (IGHD) type IB. The GH response to physical exercise (PE) in patients lacking GHRHR has never been studied. We hypothesized that subjects lacking functional GHRHR may be a model to study GH response to PE. DESIGN: We have analyzed peripheral genomic DNA of a family with two sibs...

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Source

Identifiers

PMID: 12444890
DOI: 10.1530/eje.0.1470591

Genes

GHRHR
GHRH

Variants

Provenance

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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