Associated Papers
A novel homozygous frameshift mutation (p.Lys365Glnfs*69) in a family with hereditary factor XII deficiency: a case report.
Li C et al.
Journal of Hematopathology, 2025
[Analysis of a Chinese pedigree with Hereditary coagulation factor Ⅻ deficiency due to compound heterozygous variants of Ⅻ gene].
Xie H et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2025
Clinical and genetic spectrum of factor XII deficiency in the Han population of East China.
Xu F et al.
Orphanet Journal of Rare Diseases, 2024
[Analysis of F12 gene variants and molecular mechanisms in patients with coagulation factor Ⅻ deficiency].
Fang S et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2023
Characterization of congenital factor XII deficiency in Taiwanese patients: identification of one novel and one common mutation.
Chou SC et al.
International Journal of Hematology, 2022
Mechanism, Functions, and Diagnostic Relevance of FXII Activation by Foreign Surfaces.
Konrath S et al.
Hamostaseologie, 2021
Genetic analysis of a pedigree with hereditary coagulation factor XII deficiency.
Zhang H et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2021
A novel homozygous missense mutation (Met527Ile) in a consanguineous marriage family with inherited factor XII deficiency.
Liu M et al.
Hematology (amsterdam, Netherlands), 2020
Compound heterozygous mutations Glu502Lys and Met527Thr of the FXII gene in a patient with factor XII deficiency.
Zhang H et al.
Hematology (amsterdam, Netherlands), 2019
Novel mutations in congenital factor XII deficiency.
Jin P et al.
Frontiers in Bioscience (landmark Edition), 2016
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