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Article

Targeting GH-1 splicing as a novel pharmacological strategy for growth hormone deficiency type II.

Biochemical pharmacology - 15 Jan 2017

Miletta Maria Consolata, Flück Christa E, Mullis Primus-E

Abstract excerpt

Isolated growth hormone deficiency type II (IGHD II) is a rare genetic splicing disorder characterized by reduced growth hormone (GH) secretion and short stature. It is mainly caused by autosomal dominant-negative mutations within the growth hormone gene (GH-1) which results in missplicing at the mRNA level and the subsequent loss of exon 3, producing the 17.5-kDa GH isoform: a mutant and inactive GH protein that...

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Identifiers

PMID: 27457999
DOI: 10.1016/j.bcp.2016.07.016

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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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