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Article

Isolated growth hormone deficiency type II caused by a point mutation that alters both splice site strength and splicing enhancer function.

Clinical genetics - 1 Dec 2008

Shariat N, Holladay C D, Cleary R K, Phillips J A, Patton J G

Abstract excerpt

A heterozygous single base mutation in the human growth hormone (GH) gene (GH-1) was identified in a family presenting with isolated GH deficiency type II (IGHD II). Affected individuals have a guanine to adenine transition at the first nucleotide of exon 3 (E3+1 G-->A) that results in exon skipping and production of a dominant-negative 17.5-kDa isoform. We show that the mechanistic basis for exon skipping is due...

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Identifiers

PMID: 18554279
DOI: 10.1111/j.1399-0004.2008.01042.x
PMCID: PMC4445398

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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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