Associated Papers
Missense and nonsense mutations and inhibitor development in patients with hemophilia A and B.
Karimi F et al.
Journal of Thrombosis and Thrombolysis, 2025
A Machine Learning Framework Predicts the Clinical Severity of Hemophilia B Caused by Point-Mutations.
Lopes TJS et al.
Frontiers in Bioinformatics, 2022
36304295 (PubMed )
Supplement: DataSheet1.zip › Supplementary_Table_5_-_Disambiguate.xlsx › Predictions
Mutation analysis and characterisation of F9 gene in haemophilia- B population of India.
Kulkarni S et al.
Blood Research, 2021
Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants.
Katneni UK et al.
Molecular Genetics & Genomic Medicine, 2019
31257730 (PubMed )
Supplement: MGG3-7-e840-s002.xls › F9_Splicing_Data
A new in silico approach to investigate molecular aspects of factor IX missense causative mutations and their impact on the hemophilia B severity.
Meireles MR et al.
Human Mutation, 2019
The CDC Hemophilia B mutation project mutation list: a new online resource.
Li T et al.
Molecular Genetics & Genomic Medicine, 2013
24498619 (PubMed )
Supplement: mgg30001-0238-SD1.xlsx › CHBMP_Mutation_List
Allelic heterogeneity of molecular events in human coagulation factor IX in Asian Indians. Mutation in brief #965. Online.
Mahajan A et al.
Human Mutation, 2007
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