Associated Papers
Clinical characteristics and genetic variant spectrum of 27 patients with coagulation factor XI deficiency.
Ren J et al.
Human Genetics, 2026
Clinical and Genetic Heterogeneity of Factor XI Deficiency: Insights from a Southern Italian Cohort.
Santacroce R et al.
International Journal of Molecular Sciences, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
The spectrum of factor XI deficiency in Southeast China: four recurrent variants can explain most of the deficiencies.
Zhang K et al.
Orphanet Journal of Rare Diseases, 2024
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
A focus on dominant negative variants in a series of 170 heterozygous FXI-deficient patients.
de Mazancourt P et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2023
A novel mutation (Leu60Pro) in a Chinese pedigree with hereditary factor XI deficiency.
Xie H et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2021
[A family with hereditary FⅪ deficiency caused by compound heterozygous mutation].
Zheng XY et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2021
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Combined Congenital Hypodysfibrinogemia and Factor XI Deficiency in a Chinese Family.
Peng Y et al.
Acta Haematologica, 2020
Molecular genetic analysis of the F11 gene in 14 Turkish patients with factor XI deficiency: identification of novel and recurrent mutations and their inheritance within families.
Colakoglu S et al.
Blood Transfusion = Trasfusione Del Sangue, 2018
Factor XI gene variants in factor XI-deficient patients of Southern Italy: identification of a novel mutation and genotype-phenotype relationship.
Tiscia GL et al.
Human Genome Variation, 2017
Cys482Trp missense mutation in the coagulation factor XI gene (F11) in a Korean patient with factor XI deficiency.
Choi SJ et al.
Annals of Laboratory Medicine, 2014
Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect.
Kim J et al.
Clinical Genetics, 2012
Molecular characterization of FXI deficiency.
Berber E
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2011