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Article

Biologically inactive growth hormone caused by an amino acid substitution.

The Journal of clinical investigation - 1 Sept 1997

Takahashi Y, Shirono H, Arisaka O, Takahashi K, Yagi T, Koga J, Kaji H, Okimura Y, Abe H, Tanaka T, Chihara K

Abstract excerpt

Short stature caused by biologically inactive growth hormone (GH) is characterized by lack of GH action despite high immunoassayable GH levels in serum and marked catch-up growth to exogenous GH administration. We found a heterozygous single-base substitution (A-->G) in exon 4 of the GH-1 gene of...

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Mutation
Child, Preschool
Phosphorylation
Tyrosine
Dimerization
Growth Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Human Growth Hormone

Receptors, Somatotropin

Source

Open in PubMed Open full text

Identifiers

PMID: 9276733
DOI: 10.1172/JCI119627
PMCID: PMC508291

Genes

GHR
JAK2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026. Prepared record publication-9276733-2026-08-31.1. Manifest publication-graph-cohort-2026-08-31.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 31 Aug 2026.

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