Clinical, Laboratory, and Molecular Aspects of Factor V Deficiency.


Journal

Seminars in thrombosis and hemostasis
ISSN: 1098-9064
Titre abrégé: Semin Thromb Hemost
Pays: United States
ID NLM: 0431155

Informations de publication

Date de publication:
27 Aug 2024
Historique:
medline: 28 8 2024
pubmed: 28 8 2024
entrez: 27 8 2024
Statut: aheadofprint

Résumé

Factor V (FV) is a glycoprotein that plays a pivotal role in hemostasis, being involved in coagulant and anticoagulant pathways. Congenital FV deficiency is a rare bleeding disorder with an incidence of 1 per million live births, considering the most severe homozygous form. FV deficiency is diagnosed using routine coagulation tests and FV activity assays. Several mutations, including missense, nonsense, and frameshift, have been detected in the

Identifiants

pubmed: 39191405
doi: 10.1055/s-0044-1789021
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

Thieme. All rights reserved.

Déclaration de conflit d'intérêts

None declared.

Auteurs

Massimo Franchini (M)

Department of Hematology and Transfusion Medicine, Carlo Poma Hospital, Mantua, Italy.

Daniele Focosi (D)

North-Western Tuscany Blood Bank, Pisa University Hospital, Pisa, Italy.

Classifications MeSH