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Article

Hereditary isolated growth hormone deficiency caused by GH1 gene mutations in Japanese patients.

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

Kamijo T, Hayashi Y, Seo H, Ogawa M

Abstract excerpt

Most patients with hereditary isolated growth hormone deficiency (IGHD) are either heterozygous or homozygous for a growth hormone (GH) gene abnormality. GH1 gene deletions (6.7 and 7.6 kb) from eight Japanese families with IGHD type IA has been detected by Southern blot analysis or polymerase chain reaction and Smal digestion. Heterozygous point mutations at the donor splice site of intron 3 in the GH1 gene have...

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Identifiers

PMID: 10549303
DOI: 10.1016/s1096-6374(99)80078-1

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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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