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Article

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

Human genetics - 1 Dec 1991

Siddique Z, McPhaden A R, Lappin D F, Whaley K

Abstract excerpt

Restriction fragment length polymorphism analysis, the polymerase chain reaction and nucleotide sequencing have been used to characterise a single base substitution (G----T) at nucleotide 8863 in the C1-inhibitor gene. This destroys the 5' donor splice site recognition motif of the sixth intron. Family studies suggest that the mutation is responsible for type I hereditary angio-oedema in a studied kindred.

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 1684567
DOI: 10.1007/BF00206079

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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An RNA splice site mutation in the C1-inhibitor gene causes type I hereditary angio-oedema.PMID 1684567Read ↗

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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 ↗

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