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Article

Restriction fragment length polymorphism analysis of the C1-inhibitor gene in hereditary C1-inhibitor deficiency.

Clinical genetics - 1 Mar 1991

McPhaden A R, Birnie G D, Whaley K

Abstract excerpt

Four out of 12 kindreds with Type I hereditary angio-oedema (HAE) were shown to have unique disease-related restriction fragment length polymorphism (RFLPs) in one allele of the C1-inhibitor gene. These RFLPs were used to localise the gene mutations responsible for them in each family. The four mutations affected exon 4, exon 6, exon 7 and exon 8, respectively. Mutations in exon 6 and exon 8 have not been...

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Source

Identifiers

PMID: 1674681
DOI: 10.1111/j.1399-0004.1991.tb03006.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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