A novel mutation (Tyr503Cys) in a severe factor XI deficiency
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Hematology,General Medicine
Reference15 articles.
1. Molecular basis of gamma-carboxylation. Role of the propeptide in the vitamin K-dependent proteins;Furie;Ann N Y Acad Sci,1991
2. Factor XI in haemostasis and thrombosis: past, present and future;Seligsohn;Thromb Haemost,2007
3. Factor XI activation in a revised model of blood coagulation;Gailani;Science,1991
4. Model for a factor IX activation complex on blood platelets: dimeric conformation of factor XIa is essential;Gailani;Blood,2001
5. Severe factor XI deficiency in a Korean woman with a novel missense mutation (Val498Met) and duplication G mutation in exon 13 of the F11 gene;Kwon;Blood Coagul Fibrinolysis,2008
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1. Gene Variants in Two Families with Inherited Coagulation Factor XI Deficiency and Identification of Mutations;Acta Haematologica;2022-12-21
2. Detection and Gene Mutation Analysis of Three Variations in Two Unrelated Chinese Hereditary Coagulation Factor XI Deficiency Families;Acta Haematologica;2022
3. Genetic analysis of compound heterozygous pathogenic variants of the F11 gene in two Chinese patients with hereditary factor XI deficiency;Blood Coagulation & Fibrinolysis;2021-11-16
4. Genetic analysis of a pedigree with hereditary coagulation factor XI deficiency;Blood Coagulation & Fibrinolysis;2019-12
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