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

Genetic and Clinical Characteristics of Russian Patients with Congenital Factor V Deficiency.

International journal of molecular sciences - 19 Apr 2026

Pshenichnikova Olesya, Poznyakova Julia, Shchemeleva Ekaterina, Surin Vadim, Yakovleva Elena, Likhacheva Elena, Dimitrieva Oksana, Yastrubinetskaya Olga, Andreev Nikolay, Sats Natalia, Zozulya Nadezhda

Abstract excerpt

Congenital factor V (FV) deficiency is a rare autosomal recessive bleeding disorder caused by pathogenic variants in F5 gene and characterized by heterogeneous clinical manifestations. The aim of this study was to define the mutational spectrum of F5 in Russian patients with congenital FV deficiency. We analyzed 16 unrelated patients with different disease severity and 9 relatives from five families. All...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Factor V

Share to Factor V Deficiency

Share to Genetic Association Studies

Share to Mutation

Share to Pedigree

Share to Russia

Source

Open in PubMed Open full text

Identifiers

PMID: 42074284
DOI: 10.3390/ijms27083646
PMCID: PMC13116891

Genes

F5

Provenance

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

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic and Clinical Characteristics of Russian Patients with Congenital Factor V Deficiency.PMID 42074284Read ↗

Identification of four novel mutations in F5 associated with congenital factor V deficiency.Semantic proximity Read ↗

Factor 5 mutation profile in German patients with homozygous and heterozygous factor V deficiency.Semantic proximity Read ↗

Clinical, Laboratory, and Molecular Aspects of Factor V DeficiencySemantic proximity Read ↗

[Phenotypic and genetic analysis of a pedigree affected with hereditary FV deficiency due to a novel deletional variant of F5 gene].Semantic proximity Read ↗

Molecular Genetic Analysis of Russian Patients with Coagulation Factor FVII Deficiency.Semantic proximity Read ↗

Congenital factor V deficiency from compound heterozygous mutations with a novel variant c.2426del (p.Pro809Hisfs*2) in the F5 gene: A case report.Semantic proximity Read ↗

Clinical Characterization and Molecular Analysis of Fourteen Chinese Patients with Factor V Deficiency.Semantic proximity Read ↗

Identification of three F5 gene mutations associated with inherited coagulation factor V deficiency in two Chinese pedigrees.Semantic proximity Read ↗

Factor V deficiency.Semantic proximity Read ↗

The spectrum of FVIII gene variants detected by next generation sequencing in 236 Chinese non-inversion hemophilia A pedigrees.Semantic proximity Read ↗

[Identification of a novel variant of F5 gene in a consanguineous pedigree affected with inherited coagulation factor V deficiency].Semantic proximity Read ↗

A Comprehensive Overview of Coagulation Factor V and Congenital Factor V DeficiencySemantic proximity Read ↗

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