A novel factor XII mutation, FXII R84P, causing factor XII deficiency in a patient with hereditary spastic paraplegia
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Hematology,General Medicine
Reference18 articles.
1. Characterization of human blood coagulation factor XII cDNA;Cool;J Biol Chem,1985
2. Characterization of the human blood coagulation factor XII gene;Cool;J Biol Chem,1987
3. Structure/function analysis of human factor XII using recombinant deletion mutants;Citarella;Eur J Biochem,1996
4. Structural biology, cellular interactions and pathophysiology of the contact system;Wachtfogel;Thromb Res,1993
5. Mutations in the human factor XII gene;Schloesser;Blood,1997
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1. Whole-exome sequencing reveals a novel frameshift mutation in a consanguineous family with a hereditary coagulation factor XII deficiency;Clinical Biochemistry;2023-08
2. Analysis of an Inherited FXII Deficiency Pedigree Associated with Double Heterozygous Mutations in the F12 Gene;Indian Journal of Hematology and Blood Transfusion;2023-05-10
3. Characterization of congenital factor XII deficiency in Taiwanese patients: identification of one novel and one common mutation;International Journal of Hematology;2022-06-08
4. Mechanism, Functions, and Diagnostic Relevance of FXII Activation by Foreign Surfaces;Hämostaseologie;2021-09-30
5. Genetic analysis of a novel missense mutation (Gly542Ser) with factor XII deficiency in a Chinese patient of consanguineous marriage;International Journal of Hematology;2018-01-30
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