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Article

A dysfunctional C1 inhibitor protein with a new reactive center mutation (Arg-444-->Leu).

FEBS letters - 13 Apr 1992

Frangi D, Aulak K S, Cicardi M, Harrison R A, Davis A E

Abstract excerpt

A P1 mutation (Arg-444-->Leu) was identified in a dysfunctional C1 inhibitor from a patient with type 2 hereditary angioneurotic edema. The mutation was defined at the level of the protein (by sequence analysis of the Pseudomonas aeruginosa elastase-derived reactive center peptide), and the mRNA (CGC-->CTC) (by sequence analysis of PCR-amplified DNA).

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Source

Identifiers

PMID: 1451784
DOI: 10.1016/0014-5793(92)80204-t

Provenance

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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A dysfunctional C1 inhibitor protein with a new reactive center mutation (Arg-444-->Leu).PMID 1451784Read ↗

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Molecular defects in hereditary angioneurotic edema.Semantic proximity Read ↗

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Mutations in the C1 inhibitor gene that result in hereditary angioneurotic edema.Semantic proximity Read ↗

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