Gene variants in four pedigrees with hereditary coagulation factor XI deficiency and one novel mutation identification
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Hematology,General Medicine
Reference10 articles.
1. Hemarthrosis revealing congenital factor XI deficiency;Souabni;Joint Bone Spine,2008
2. Prospective analysis of factor XI deficiencies in the Marseilles area identified four novel mutations among 12 consecutive unrelated families;Quélin;Blood Coagul Fibrinolysis,2009
3. An update on factor XI structure and function;Mohammed;Thromb Res,2018
4. Two factor XI mutations in a Chinese family with factor XI deficiency;Au;Am J Hematol,2003
5. Factor XI binding to activated platelets is mediated by residues R(250), K(255), F(260), and Q(263) within the apple 3 domain;Ho;Biochemistry,2000
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. The spectrum of factor XI deficiency in Southeast China: four recurrent variants can explain most of the deficiencies;Orphanet Journal of Rare Diseases;2024-06-04
2. Gene Variants in Two Families with Inherited Coagulation Factor XI Deficiency and Identification of Mutations;Acta Haematologica;2022-12-21
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