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Article

A Japanese patient with hereditary angioedema caused by deep intron variation in the SERPING1 gene.

The Journal of dermatology - 1 Sept 2023

Hida Tokimasa, Ishikawa Aki, Okura Masae, Kishibe Mari, Uhara Hisashi

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37157851
DOI: 10.1111/1346-8138.16817

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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A Japanese patient with hereditary angioedema caused by deep intron variation in the SERPING1 gene.PMID 37157851Read ↗

Mutation update of SERPING1 related to hereditary angioedema in the Chinese population.Semantic proximity Read ↗

Novel Heterozygous variant of the SERPING1 gene associated with hereditary angioedema in an Italian family based in AustraliaSemantic proximity Read ↗

Gene symbol: SERPING1. Disease: Angioneurotic oedema.Semantic proximity Read ↗

SERPING1 and F12 combined variants in a hereditary angioedema family.Semantic proximity Read ↗

A novel deep intronic SERPING1 variant as a cause of hereditary angioedema due to C1-inhibitor deficiency.Semantic proximity Read ↗

Genetic Study of Hereditary Angioedema Type I and Type II (First Report from Iranian Patients: Describing Three New Mutations).Semantic proximity Read ↗

Type II hereditary angioedema with an apparently de novo SERPING1 mutation in China: A case report and family screening.Semantic proximity Read ↗

Identification and characterization of a novel splice site mutation in the SERPING1 gene in a family with hereditary angioedema.Semantic proximity Read ↗

A Missense Mutation of the Plasminogen Gene in a Japanese Family with Hereditary Angioedema with Normal C1 Inhibitor: Third Family Survey in Asia.Semantic proximity Read ↗

Case Report: Identification of a novel mutation, c.1067T > A, in the SERPING1 gene in a Chinese male with type 1 hereditary angioedemaSemantic proximity Read ↗

Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE CohortSemantic proximity Read ↗

The Expanding Spectrum of Mutations in Hereditary Angioedema.Semantic proximity Read ↗

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