Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutation update of SERPING1 related to hereditary angioedema in the Chinese population.

Hereditas - 11 Jul 2022

Wang Xue, Lei Shubin, Xu Yingyang, Liu Shuang, Zhi Yuxiang

Abstract excerpt

BACKGROUND: Hereditary angioedema (HAE) is a rare disease characterized by recurrent attacks of severe swellings of the skin and submucosa. More than 900 variants of the SERPING1 gene associated with HAE have been identified. However, only approximately 50 variants have been identified in the Chinese population. This study aimed to update the mutational spectrum in Chinese HAE patients and provide evidence for...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Angioedemas, Hereditary
Share to Asian People
Share to China

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Coagulation, Bradykinin, Polyphosphates, and Angioedema

Share to Complement C1 Inhibitor Protein

Share to Complement system in diseases

Share to Mutation

Share to Urticaria and Related Conditions

Source

Open in PubMed Open full text

Identifiers

PMID: 35821062
DOI: 10.1186/s41065-022-00242-z
PMCID: PMC9277798

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation update of SERPING1 related to hereditary angioedema in the Chinese population.PMID 35821062Read ↗

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 ↗

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

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

A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1.Semantic proximity Read ↗

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

Novel SERPING1 Genetic Variant in Two Family Members with Hereditary Angioedema.Semantic proximity Read ↗

Hereditary Angioedema Nationwide Study in Slovenia Reveals Four Novel Mutations in SERPING1 GeneSemantic proximity Read ↗

SERPING1 mutations in 59 families with hereditary angioedema.Semantic proximity Read ↗

Phenotypic and Genotypic Characterization of Hereditary Angioedema in Saudi Arabia.Semantic proximity Read ↗

The Genetics of Hereditary Angioedema: A ReviewSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.