F9 mutations causing deletions beyond the serine protease domain confer higher risk for inhibitor development in hemophilia B
Author:
Affiliation:
1. 1Hemophilia Comprehensive Care Center, Beijing Children's Hospital, Capital Medical University, Beijing, China
2. 2Faculty of Laboratory Medicine, Ruijin Hospital affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, China
Publisher
American Society of Hematology
Subject
Cell Biology,Hematology,Immunology,Biochemistry
Link
https://ashpublications.org/blood/article-pdf/141/6/677/2032817/blood_bld-2022-017871-main.pdf
Reference12 articles.
1. Inhibitor incidence in an unselected cohort of previously untreated patients with severe haemophilia B: a PedNet study;Male;Haematologica,2021
2. Inhibitors in hemophilia B;Santoro;Semin Thromb Hemost,2018
3. The CDC Hemophilia B Mutation Project mutation list: a new online resource;Li;Mol Genet Genomic Med,2013
4. The Nijmegen modification of the Bethesda assay for factor VIII:C inhibitors: improved specificity and reliability;Verbruggen;Thromb Haemost,1995
5. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology;Richards;Genet Med,2015
Cited by 3 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. Study on the Mutation of FⅨ Gene in 31 Patients with Type B Hemophilia;Clinical and Applied Thrombosis/Hemostasis;2024-01
2. Recent Advances in Genetic and Non-Genetic Factors Related to the Development of Hemophilia Inhibitors;Advances in Clinical Medicine;2024
3. Complete F9 Gene Deletion, Duplication, and Triplication Rearrangements: Implications for Factor IX Expression and Clinical Phenotypes;Thrombosis and Haemostasis;2023-11-27
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