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

Combinations of 4 mutations (FV R506Q, FV H1299R, FV Y1702C, PT 20210G/A) affecting the prothrombinase complex in a thrombophilic family.

Blood - 15 Aug 2000

Castoldi E, Simioni P, Kalafatis M, Lunghi B, Tormene D, Girelli D, Girolami A, Bernardi F

Abstract excerpt

The study of the molecular bases of thrombophilia in a large family with 4 symptomatic members is reported. Three thrombophilic genetic components (FV R506Q, FV H1299R, and PT 20210G/A), all affecting the activity of the prothrombinase complex, were detected alone and in combination in various family members. In addition, a newly identified missense mutation (factor V [FV] Y1702C), causing FV deficiency, was also...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Sequence
Share to Blood Coagulation and Thrombosis Mechanisms

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

Share to APC gene

Share to Molecular Sequence Data

Share to Mutation

Share to Pedigree

Share to Thrombophilia

Share to Thromboplastin

Source

Identifiers

PMID: 10942390

Genes

APC

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

Combinations of 4 mutations (FV R506Q, FV H1299R, FV Y1702C, PT 20210G/A) affecting the prothrombinase complex in a thrombophilic family.PMID 10942390Read ↗

A novel factor V compound heterozygous mutation associated with thrombosis (Y1961C; FV-Kanazawa, together with 1982_1983del).Semantic proximity Read ↗

Coinheritance of factor V Leiden (F5 1691A) and prothrombin 20210 A (F2 20210A) in an Austrian family as cause for early onset of venous thromboembolism.Semantic proximity Read ↗

Clinical and analytical relevance of the combination of prothrombin 20210A/A and factor V Leiden: results from a large family.Semantic proximity Read ↗

Venous thromboembolism at a young age in a brother and sister with coinheritance of homozygous 20210A/A prothrombin mutation and heterozygous 1691G/A factor V Leiden mutation.Semantic proximity Read ↗

Clinical and molecular characterization of 6 patients affected by severe deficiency of coagulation factor V: Broadening of the mutational spectrum of factor V gene and in vitro analysis of the newly identified missense mutations.Semantic proximity Read ↗

Homozygotes for prothrombin gene 20210 A allele in a thrombophilic family without clinical manifestations of venous thromboembolism.Semantic proximity Read ↗

Coexistence of three genetic risk factors in a Spanish thrombophilic family: Factor V Leiden, prothrombin 20210 and a new type I antithrombin deficiency.Semantic proximity Read ↗

Combination of congenital coagulation disorders: Factor II gene mutation G20210A, Factor V Leiden gene mutation G1691A and protein S deficiency. a family study.Semantic proximity Read ↗

Fibrinogen bellingham: a gamma-chain R275C substitution and a beta-promoter polymorphism in a thrombotic member of an asymptomatic family.Semantic proximity Read ↗

A three-generation family presenting five cases of homozygosity for the 20210 G to A prothrombin variant.Semantic proximity Read ↗

[Clinical and genetic analysis of two families with combined defect in antithrombin and protein C genes].Semantic proximity Read ↗

Homozygous factor V splice site mutation associated with severe factor V deficiency.Semantic proximity Read ↗

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