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Article

Exon splice enhancer mutation (GH-E32A) causes autosomal dominant growth hormone deficiency.

The Journal of clinical endocrinology and metabolism - 1 Nov 2007

Petkovic Vibor, Lochmatter Didier, Turton James, Clayton Peter E, Trainer Peter J, Dattani Mehul T, Eblé Andrée, Robinson Iain C, Flück Christa E, Mullis Primus E

Abstract excerpt

CONTEXT AND OBJECTIVE: Alteration of exon splice enhancers (ESE) may cause autosomal dominant GH deficiency (IGHD II). Disruption analysis of a (GAA) (n) ESE motif within exon 3 by introducing single-base mutations has shown that single nucleotide mutations within ESE1 affect pre-mRNA splicing. DESIGN, SETTING, AND PATIENTS: Confirming the laboratory-derived data, a heterozygous splice enhancer mutation in exon 3...

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Identifiers

PMID: 17726075
DOI: 10.1210/jc.2007-0857

Genes

GAA

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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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