Associated Papers
Clinical characteristics and genetic variant spectrum of 27 patients with coagulation factor XI deficiency.
Ren J et al.
Human Genetics, 2026
A Rare Case of Hereditary Factor XI Deficiency Accompanied by Lupus Anticoagulant in an Adult Patient with Monoclonal Gammopathy of Undetermined Significance.
Liu H
Internal Medicine (tokyo, Japan), 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
Clinical application of whole exome sequencing for recurrent early pregnancy loss.
Liu C et al.
Asian Journal of Surgery, 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
Case Report: Allelic and biallelic variants in coagulation factor XI cause factor XI deficiency.
Liang C et al.
Frontiers in Cardiovascular Medicine, 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
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
Chau JFT et al.
Npj Genomic Medicine, 2022
Analysis of 272 Genetic Variants in the Upgraded Interactive FXI Web Database Reveals New Insights into FXI Deficiency.
Harris VA et al.
Th Open : Companion Journal to Thrombosis and Haemostasis, 2021
[Analysis of the molecular pathogenesis and clinical phenotypes of 10 patients with inherited coagulation factor Ⅺ deficiency].
Li SX et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2020
Characterization of hereditary factor XI deficiency in Taiwanese patients: identification of three novel and two common mutations.
Lin HY et al.
International Journal of Hematology, 2020
Gene variants in four pedigrees with hereditary coagulation factor XI deficiency and one novel mutation identification.
Lin F et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2020
[Phenotype and Genotype Analysis in Two Pedigrees with Hereditary Coagulation Factor Ⅺ Deficiency].
Weng MS et al.
Sichuan Da Xue Xue Bao. Yi Xue Ban = Journal of Sichuan University. Medical Science Edition, 2020
High-frequency actionable pathogenic exome variants in an average-risk cohort.
Rego S et al.
Cold Spring Harbor Molecular Case Studies, 2018
Exploring the global landscape of genetic variation in coagulation factor XI deficiency.
Asselta R et al.
Blood, 2017
Genetic analysis in Factor XI deficient patients from central China: identification of one novel and seven recurrent mutations.
Liu H et al.
Gene, 2015
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