Associated Papers
Inherited coagulation factor VII deficiency in Taiwan: Two novel F7 variants with relevant regional features in 33 patients.
Lin HY et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2024
Synonymous variant at the terminal nucleotide in exon 3 of F7 causes abnormal splicing: A case report.
Wang L et al.
Molecular Genetics & Genomic Medicine, 2024
[Analysis of three Chinese pedigrees affected with Hereditary factor Ⅶ deficiency due to compound heterozygous variants of F7 gene].
Ye L et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2024
Genetic Landscape of Factor VII Deficiency: Insights from a Comprehensive Analysis of Pathogenic Variants and Their Impact on Coagulation Activity.
Preisler B et al.
International Journal of Molecular Sciences, 2024
Structural and functional characterization of novel F7 mutations identified in Chinese factor VII-deficient patients.
Lou C et al.
British Journal of Haematology, 2023
Factor VII deficiency in China: Phenotype, genotype and current status of management.
Qu C et al.
British Journal of Haematology, 2023
Hereditary coagulation factor VII deficiency caused by novel compound heterozygous mutations in a Chinese pedigree: A case report.
Cai R et al.
Journal of Clinical Laboratory Analysis, 2023
Mutations of TFPI-binding exosites on factor VII cause bleeding phenotypes in factor VII deficiency.
Seanoon K et al.
Blood Advances, 2022
Inhibitor in Congenital Factor VII Deficiency; a Rare but Serious Therapeutic Challenge-A Systematic Literature Review.
Ramezanpour N et al.
Journal of Clinical Medicine, 2021
Case Report: Factor VII Deficiency Presented With Cephalohematoma After Birth.
Lo YC et al.
Frontiers in Pediatrics, 2021
The EAHAD blood coagulation factor VII variant database.
Giansily-Blaizot M et al.
Human Mutation, 2020
Novel IVS7+1G>T mutation of life-threatening congenital factor VII deficiency in neonates: A retrospective study in China.
He J et al.
Medicine, 2019
Factor VII Gene Defects: Review of Functional Studies and Their Clinical Implications
Shahbazi S et al.
Iranian Biomedical Journal, 2019
Genotype and phenotype correlation in intracranial hemorrhage in neonatal factor VII deficiency among Thai children.
Traivaree C et al.
The Application of Clinical Genetics, 2017
Inhibitor development after liver transplantation in congenital factor VII deficiency.
See WS et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2016
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
Activation of a cryptic splice site in a potentially lethal coagulation defect accounts for a functional protein variant.
Cavallari N et al.
Biochimica Et Biophysica Acta, 2012
[A pedigree analysis of pulmonary embolism caused by compound heterozygous mutations of protein C].
Ye X et al.
Nan Fang Yi Ke Da Xue Xue Bao = Journal of Southern Medical University, 2012
Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene.
Herrmann FH et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2009
Gentamicin induces sub-therapeutic levels of coagulation factor VII in patients with nonsense mutations.
Pinotti M et al.
Journal of Thrombosis and Haemostasis : Jth, 2006
Intracellular readthrough of nonsense mutations by aminoglycosides in coagulation factor VII.
Pinotti M et al.
Journal of Thrombosis and Haemostasis : Jth, 2006