Associated Papers
An intronic RNA element modulates Factor VIII exon-16 splicing.
Tse V et al.
Nucleic Acids Research, 2024
37962303 (PubMed )
Supplement: gkad1034_supplemental_files.zip › Supplemental_Table_1.xlsx › Sheet1
Prediction of hemophilia A severity using a small-input machine-learning framework.
Lopes TJS et al.
Npj Systems Biology and Applications, 2021
34035274 (PubMed )
Supplement: 41540_2021_183_MOESM3_ESM.xlsx › Predictions___Clinical_reports
Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity.
Marín Ò et al.
Scientific Reports, 2019
31267011 (PubMed )
Supplement: 41598_2019_45916_MOESM2_ESM.xlsx › Variants_used
Mutation characteristic of 103 haemophilia A patients in Vietnam: Identification of novel mutations.
Luu DV et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2019
Spectrum of Molecular Defects in 216 Chinese Families With Hemophilia A: Identification of Noninversion Mutation Hot Spots and 42 Novel Mutations.
Guo Z et al.
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2018
Novel mutations associated with a discrepancy between one-stage and chromogenic FVIII activity assays.
Provaznikova D et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2015
Haemophilia A mutations in the UK: results of screening one-third of the population.
Green PM et al.
British Journal of Haematology, 2008
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