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

Partial F8 gene duplication (factor VIII Padua) associated with high factor VIII levels and familial thrombophilia.

Blood - 29 Apr 2021

Simioni Paolo, Cagnin Stefano, Sartorello Francesca, Sales Gabriele, Pagani Luca, Bulato Cristiana, Gavasso Sabrina, Nuzzo Francesca, Chemello Francesco, Radu Claudia M, Tormene Daniela, Spiezia Luca, Hackeng Tilman M, Campello Elena, Castoldi Elisabetta

Abstract excerpt

High coagulation factor VIII (FVIII) levels comprise a common risk factor for venous thromboembolism (VTE), but the underlying genetic determinants are largely unknown. We investigated the molecular bases of high FVIII levels in 2 Italian families with severe thrombophilia. The proband of the first family had a history of recurrent VTE before age 50 years, with extremely and persistently elevated FVIII antigen...

Read the complete abstract on PubMed

Topics

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

Share to Biomarkers
Share to Factor VIII

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Follow-Up Studies

Share to Gene Duplication

Share to Pedigree

Share to Prognosis

Share to Thrombophilia

Share to Whole Genome Sequencing

Source

Identifiers

PMID: 33275657
DOI: 10.1182/blood.2020008168

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Partial F8 gene duplication (factor VIII Padua) associated with high factor VIII levels and familial thrombophilia.PMID 33275657Read ↗

Aberrant F8 gene intron 1 inversion with concomitant duplication and deletion in a severe hemophilia A patient from Southern Italy.Semantic proximity Read ↗

Copy number variations of the F8 gene are associated with venous thromboembolism.Semantic proximity Read ↗

Mutational spectrum of F8 gene and prothrombotic gene variants in haemophilia A patients from Southern Italy.Semantic proximity Read ↗

Tandem inversion duplication within F8 Intron 1 associated with mild haemophilia A.Semantic proximity Read ↗

Complete F9 Gene Deletion, Duplication, and Triplication Rearrangements: Implications for Factor IX Expression and Clinical Phenotypes.Semantic proximity Read ↗

Spectrum of F8 gene mutations in haemophilia A patients from a region of Italy: identification of 23 new mutations.Semantic proximity Read ↗

Molecular characterization of five Italian families with inherited severe factor XIII deficiency.Semantic proximity Read ↗

High incidence of FXI deficiency in a Spanish town caused by 11 different mutations and the first duplication of F11: Results from the Yecla study.Semantic proximity Read ↗

Hemophilia B Leyden and once mysterious cis-regulatory mutations.Semantic proximity Read ↗

Identification of deep intronic variants in 15 haemophilia A patients by next generation sequencing of the whole factor VIII gene.Semantic proximity Read ↗

Characterization of four novel molecular changes in the promoter region of the factor VIII gene.Semantic proximity Read ↗

A homozygous duplication of the <I>FGG</i> exon 8-intron 8 junction causes congenital afibrinogenemia. Lessons learned from the study of a large consanguineous Turkish family.Semantic proximity Read ↗

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