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Article

Human growth hormone 1 (GH1) gene expression: complex haplotype-dependent influence of polymorphic variation in the proximal promoter and locus control region.

Human mutation - 1 Apr 2003

Horan Martin, Millar David S, Hedderich Jürgen, Lewis Geraint, Newsway Vicky, Mo Neil, Fryklund Linda, Procter Annie M, Krawczak Michael, Cooper David N

Abstract excerpt

The proximal promoter region of the human pituitary expressed growth hormone (GH1) gene is highly polymorphic, containing at least 15 single nucleotide polymorphisms (SNPs). This variation is manifest in 40 different haplotypes, the high diversity being explicable in terms of gene conversion, recurrent mutation, and selection. Functional analysis showed that 12 haplotypes were associated with a significantly...

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PMID: 12655556
DOI: 10.1002/humu.10167

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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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