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Article

A novel mechanism of aberrant pre-mRNA splicing in humans.

Human molecular genetics - 1 Jun 1997

Cogan J D, Prince M A, Lekhakula S, Bundey S, Futrakul A, McCarthy E M, Phillips J A

Abstract excerpt

Eukaryotic pre-mRNA splicing is regulated by consensus sequences at the intron boundaries and branch site. Recently, Sirand-Pugnet et al. reported the importance of an additional intronic sequence, an (A/U)GGG repeat in chicken beta-tropomyosin that is a binding site for a protein required for spliceosome assembly. Interestingly, we have detected mutations in IVS3 of the human growth hormone (GH) gene that affect...

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PMID: 9175738
DOI: 10.1093/hmg/6.6.909

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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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