Associated Papers
A novel dinucleotide variant at 5' splice sites in the F8 gene causes exon 19 skipping in a Chinese family with hemophilia A.
Zhou X et al.
Frontiers in Genetics, 2025
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
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
Literature review and clinical observation of acquired idiopathic hemophilia with a new missense mutation in the factor VIII gene (His2026Arg).
Ershov VI et al.
Terapevticheskii Arkhiv, 2018
Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis and activity.
Donadon I et al.
Haematologica, 2018
Hemophilia A: different phenotypes may be explained by multiple and variable effects of the causative mutation in the F8 gene.
Castaman G
Haematologica, 2018
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