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Article

A novel mutation at the donor splice site of intron 3 of the GH-I gene in a patient with isolated growth hormone deficiency.

Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society - 1 Dec 1999

Hayashi Y, Kamijo T, Yamamoto M, Ohmori S, Phillips J A, Ogawa M, Igarashi Y, Seo H

Abstract excerpt

A G - C transversion at the fifth nucleotide of intron 3 of GH-I gene was identified in a sporadic case of isolated growth hormone deficiency (IGHD). The mutation was absent in both of the parents, indicating that the mutation occurred de novo. An abnormal hGH mRNA lacking a region encoded by exon 3 was spliced when the mutant GH-I gene was expressed in cultured cells. Since skipping of exon 3 is a common feature...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 10629163
DOI: 10.1054/ghir.1999.0126

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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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