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Article

Nonsense mutations affect C1 inhibitor messenger RNA levels in patients with type I hereditary angioneurotic edema.

The Journal of clinical investigation - 1 Sept 1991

Frangi D, Cicardi M, Sica A, Colotta F, Agostoni A, Davis A E

Abstract excerpt

Members of two unrelated families with type I hereditary angioneurotic edema (HANE) were found to have elevated levels of C1 inhibitor (C1INH) mRNA. DNA sequence analysis of PCR-amplified monocyte C1INH mRNA revealed normal and mutant transcripts, as expected in this disorder that occurs in heterozygous individuals. Single base mutations near the 3' end of the coding sequence were identified in affected members...

Topics

Angioedema
Base Sequence
Blotting, Northern
Complement C1 Inactivator Proteins
Humans
Mutation
Polymerase Chain Reaction
RNA, Messenger

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 1885769
DOI: 10.1172/JCI115373
PMCID: PMC295456

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1885769-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Nonsense mutations affect C1 inhibitor messenger RNA levels in patients with type I hereditary angioneurotic edema.PMID 1885769Read ↗

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