Associated Papers
All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.
Holm LL et al.
Nucleic Acids Research, 2024
38324470 (PubMed )
Supplement: gkae077_supplemental_files.zip › supplementary_tables.xlsx › Supplementary_table_S1_-_ESM_DB
Unearthing the genotype-inhibitor phenotype association in severe haemophilia A: A north Indian cohort study.
Ray D et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2024
An intronic RNA element modulates Factor VIII exon-16 splicing.
Tse V et al.
Nucleic Acids Research, 2024
Mutation detection and inhibitor analysis of 43 children with severe hemophilia A in a single center: three novel mutations.
Yang C et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2024
Factor VIII Antigen, Activity, and Mutations in Hemophilia A.
Nair PS et al.
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2016
Mutations in intron 1 and intron 22 inversion negative haemophilia A patients from Western India.
Nair PS et al.
Plos One, 2014
Factor 5 mutation profile in German patients with homozygous and heterozygous factor V deficiency.
Delev D et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2009
Inherited defects of coagulation factor V: the hemorrhagic side.
Asselta R et al.
Journal of Thrombosis and Haemostasis : Jth, 2006
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