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

Hereditary coagulation factor VII deficiency caused by novel compound heterozygous mutations c.572-1G>A and c.1037A>C in a Chinese pedigree.

Gene - 30 Nov 2024

Wei Lindan, Fan Chenxi, Sun Xin, Wang Xin, Yu Hongsong

Abstract excerpt

Hereditary coagulation factor VII (FVII) deficiency is a rare autosomal recessive bleeding disorder. The aims of this study were to identify and verify the pathogenic mutation sites in a family with hereditary coagulation FVII deficiency, and preliminarily explore the underlying mechanisms. We identified a novel combination of compound heterozygous mutations, c.572-1G>A and c.1037A>C in F7 gene, associated with...

Read the complete abstract on PubMed

Topics

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

Share to China
Share to East Asian People
Share to Factor VII

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

Share to Factor VII Deficiency

Share to Heterozygote

Share to Mutation

Share to Mutation, Missense

Share to Pedigree

Source

Identifiers

PMID: 39047958
DOI: 10.1016/j.gene.2024.148788

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

Hereditary coagulation factor VII deficiency caused by novel compound heterozygous mutations c.572-1G>A and c.1037A>C in a Chinese pedigree.PMID 39047958Read ↗

Structural and functional characterization of novel F7 mutations identified in Chinese factor VII-deficient patients.Semantic proximity Read ↗

Phenotypic and genotypic characterization of two factor VII deficiency patients from southeastern China.Semantic proximity Read ↗

Phenotypic and genotypic characterization of four factor VII deficiency patients from central China.Semantic proximity Read ↗

Identification of two novel mutations in three children with congenital factor VII deficiency.Semantic proximity Read ↗

Analysis of clinical manifestations and molecular pathogenesis of six patients with hereditary blood coagulation factor VII deficiency.Semantic proximity Read ↗

Novel factor VII gene mutations in six families with hereditary coagulation factor VII deficiency.Semantic proximity Read ↗

A novel compound heterozygous variant linked to hematuria in a family with hereditary factor VII deficiency.Semantic proximity Read ↗

[Analysis of a Chinese pedigree affected with hereditary factor VII deficiency caused by compound heterozygous variants of F7 gene].Semantic proximity Read ↗

Compound Heterozygous Mutations in the F7 Gene in 2 Unrelated Families With Congenital Factor VII Deficiency.Semantic proximity Read ↗

Hereditary coagulation factor VII deficiency caused by novel compound heterozygous mutations in a Chinese pedigree: A case report.Semantic proximity Read ↗

Using a minigene approach to characterize a novel splice site mutation in human F7 gene causing inherited factor VII deficiency in a Chinese pedigree.Semantic proximity Read ↗

Recurrent mutations and genotype-phenotype correlations in hereditary factor VII deficiency in Korea.Semantic proximity Read ↗

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