4.6 Editorial Material

Factor VII deficiency: A cause of (or risk factor for) bleeding?

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Article Hematology

Structural and functional characterization of novel F7 mutations identified in Chinese factor VII-deficient patients

Can Lou et al.

Summary: This study investigated 50 unrelated Chinese patients with Hereditary factor VII (FVII) deficiency and identified a total of 25 mutations in the F7 gene, including missense and splicing mutations. The c.1224T>G (p.His408Gln) mutation in exon 9 was found to be a hotspot, present in 19 patients. The study also discovered eight novel mutations and confirmed their functional consequences through in vitro expression and functional studies.

BRITISH JOURNAL OF HAEMATOLOGY (2023)

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Biochemical, molecular and clinical aspects of coagulation factor VII and its role in hemostasis and thrombosis

Francesco Bernardi et al.

Summary: The article highlights the importance of the FVIIa-TF complex in clotting, as well as the clinical implications and genetic variations associated with FVII activity. It discusses the causes, clinical manifestations, treatment options of congenital FVII deficiency, and the role of FVII in cardiovascular disease.

HAEMATOLOGICA (2021)

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The EAHAD blood coagulation factor VII variant database

Muriel Giansily-Blaizot et al.

HUMAN MUTATION (2020)

Article Hematology

Clinical phenotypes and factor VII genotype in congenital factor VII deficiency

G Mariani et al.

THROMBOSIS AND HAEMOSTASIS (2005)