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

Characterisation of nucleotide sequence variants and disease-specific mutations involving the 3' end of the C1-inhibitor gene in hereditary angio-oedema.

Human heredity - 1 Jan 2000

Siddique Z, McPhaden A R, Whaley K

Abstract excerpt

The sixth, seventh and eighth exons of both alleles of the C1-inhibitor gene were nucleotide sequenced in 52 individuals from 20 kindred with type I hereditary angio-oedema (HAE), 5 kindred with type II HAE and 10 control kindred. Four previously unreported nucleotide which had no disease specificity were identified in addition to a sequencing error in the eighth exon. In addition, a T-->C mutation at position...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Angioedema
Share to Base Sequence

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

Share to Complement C1 Inactivator Proteins

Share to Molecular Sequence Data

Share to Mutation

Share to Sequence Analysis, DNA

Source

Identifiers

PMID: 7750982
DOI: 10.1159/000154267

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Characterisation of nucleotide sequence variants and disease-specific mutations involving the 3' end of the C1-inhibitor gene in hereditary angio-oedema.PMID 7750982Read ↗

C1-inhibitor gene nucleotide insertion causes type II hereditary angio-oedema.Semantic proximity Read ↗

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 ↗

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

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

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 ↗

Mutational spectrum of the c1 inhibitor gene in a cohort of Italian patients with hereditary angioedema: description of nine novel mutations.Semantic proximity Read ↗

Haploinsufficiency due to deletion within the 3'-UTR of C1-INH-gene associated with hereditary angioedema.Semantic proximity Read ↗

New insights into hereditary angio-oedema: Molecular diagnosis and therapy.Semantic proximity Read ↗

A review of the reported defects in the human C1 esterase inhibitor gene producing hereditary angioedema including four new mutations.Semantic proximity Read ↗

Frequent de novo mutations and exon deletions in the C1inhibitor gene of patients with angioedemaSemantic proximity Read ↗

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

Frequent life-threatening laryngeal attacks in two Croatian families with hereditary angioedema due to C1 inhibitor deficiency harbouring a novel frameshift mutation in SERPING1.Semantic proximity Read ↗

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