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Article

Haploinsufficiency due to deletion within the 3'-UTR of C1-INH-gene associated with hereditary angioedema.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2006

Laimer Martin, Klausegger Alfred, Aberer Werner, Oender Kamil, Steinhuber Mathias, Lanschuetzer Christoph M, Wally Verena, Hintner Helmut, Bauer Johann W

Abstract excerpt

PURPOSE: Sequences within the non-coding 3'UTR (untranslated region) of genes were reported to be involved in the regulation of gene expression by modifying pathways of (co)transcription, post-transcriptional processing and RNA transport. However, direct biological evidence (i.e., knock-out models) is sparse. This report intends to correlate the first reported alteration within the 3'UTR of the C1 inhibitor...

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Identifiers

PMID: 16617246
DOI: 10.1097/01.gim.0000214302.90076.fa

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Source receipt: pubmed, retrieved 7 Sept 2026.

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