A novel factor X mutation Cys81 by Arg and a reported factor VII polymorphism Arg353 replaced by Gln co-occured in a patient
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Hematology,General Medicine
Reference25 articles.
1. Factor X deficiency;Uprichard;Blood Rev,2002
2. Factor VII deficiency;Perry;Br J Haematol,2002
3. Diagnosis and treatment of inherited factor X deficiency;Brown;Haemophilia,2008
4. Large deletions play a minor but essential role in congenital coagulation factor VII and X deficiencies;Rath;Hamostaseologie,2015
5. A novel Ala275Val mutation in factor X gene influences its structural compatibility and impairs intracellular trafficking and coagulant activity;Sun;Thromb Res,2016
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1. Characterization of a Missense Mutation in the Catalytic Domain and a Splicing Mutation of Coagulation Factor X Compound Heterozygous in a Chinese Pedigree;Genes;2021-09-27
2. A Compound Heterozygosis of Two Novel Mutations Causes Factor X Deficiency in a Chinese Pedigree;Acta Haematologica;2020-06-29
3. Rare bleeding disorders and advances in gene therapy;Blood Coagulation & Fibrinolysis;2019-12
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