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Article

Novel mutations in the GH gene (GH1) uncover putative splicing regulatory elements.

Endocrinology - 1 May 2014

Babu Deepak, Mellone Simona, Fusco Ileana, Petri Antonella, Walker Gillian E, Bellone Simonetta, Prodam Flavia, Momigliano-Richiardi Patricia, Bona Gianni, Giordano Mara

Abstract excerpt

Mutations affecting exon 3 splicing are the main cause of autosomal dominant Isolated GH Deficiency II (IGHDII) by increasing the level of exon 3-skipped mRNA encoding the functionally inactive dominant-negative 17.5-kDa isoform. The exons and introns of the gene encoding GH (GH1) were screened for the presence of mutations in 103 sporadic isolated GH deficiency cases. Four different variations within exon 3 were...

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PMID: 24635352
DOI: 10.1210/en.2013-2146

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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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