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Article

Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements.

1 Feb 1990

Abstract excerpt

Frequent alterations in the structure of the complement component C1 inhibitor gene have been found in patients affected by the common variant of hereditary angioedema, characterized by low plasma levels of C1 inhibitor. This control protein limits the enzymic activity of the first component of complement and of other plasma serine proteases. Sequence comparisons of a 4.6-kilobase-long segment of the normal gene...

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Identifiers

PMID: 2154751
DOI: 10.1073/pnas.87.4.1551

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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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Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements.PMID 2154751Read ↗

A cluster of mutations within a short triplet repeat in the C1 inhibitor gene.Semantic proximity Read ↗

Molecular genetics of C1 inhibitor.Semantic proximity Read ↗

Complete nucleotide sequence of the gene for human C1 inhibitor with an unusually high density of <i>Alu</i> elementsSemantic proximity Read ↗

The effect of sequence variations within the coding region of the C1 inhibitor gene on disease expression and protein function in families with hereditary angio-oedema.Semantic proximity Read ↗

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

Detection of C1 inhibitor mutations in patients with hereditary angioedema.Semantic proximity Read ↗

Molecular defects in hereditary angioneurotic edema.Semantic proximity Read ↗

An RNA splice site mutation in the C1-inhibitor gene causes type I hereditary angio-oedema.Semantic proximity Read ↗

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

C1-inhibitor gene nucleotide insertion causes type II hereditary angio-oedema.Semantic proximity Read ↗

Type II hereditary angioneurotic edema that may result from a single nucleotide change in the codon for alanine-436 in the C1 inhibitor gene.Semantic proximity Read ↗

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