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Article

A novel donor splice site mutation in the C1 inhibitor gene of a patient with type I hereditary angioneurotic edema.

The Journal of investigative dermatology - 1 May 1998

Kawachi Y, Hibi T, Yamazaki S, Otsuka F

Abstract excerpt

We studied the molecular genetic basis of a C1 inhibitor deficiency in a patient with type I hereditary angioneurotic edema using both the polymerase chain reaction and nucleotide sequencing. A single nucleotide change (T-->A) at the GT 5' donor splice recognition motif in the seventh intron of the C1 inhibitor gene was detected. A restriction site analysis of the C1 inhibitor gene in the patient's family...

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PMID: 9579556
DOI: 10.1046/j.1523-1747.1998.00170.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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A novel donor splice site mutation in the C1 inhibitor gene of a patient with type I hereditary angioneurotic edema.PMID 9579556Read ↗

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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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Type II hereditary angio-oedema associated with two mutations in one allele of the C1-inhibitor gene around the reactive-site coding region.Semantic proximity Read ↗

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