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Article

Decreased expression of the GHRH receptor gene due to a mutation in a Pit-1 binding site.

Molecular endocrinology (Baltimore, Md.) - 1 Mar 2002

Salvatori Roberto, Fan Xiaoguang, Mullis Primus E, Haile Azeb, Levine Michael A

Abstract excerpt

A variety of mutations in the gene encoding the GHRH receptor (GHRHR) that are predicted to alter protein structure or function have been recently described in patients with isolated GH deficiency type IB. In the present report we describe a patient with isolated GH deficiency type IB who was heterozygous for two novel mutations in this gene: a missense mutation in codon 329 that replaces lysine with glutamic...

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Source

Identifiers

PMID: 11875102
DOI: 10.1210/mend.16.3.0785

Genes

GHRHR
GHRH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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