Associated Papers
Comprehensive Analysis of Hemophilia A (CAHEA): Towards Full Characterization of the F8 Gene Variants by Long-Read Sequencing.
Liu Y et al.
Thrombosis and Haemostasis, 2023
Translational readthrough at F8 nonsense variants in the factor VIII B domain contributes to residual expression and lowers inhibitor association.
Testa MF et al.
Haematologica, 2023
35924581 (PubMed )
Supplement: 2022_281279_TESTA_SUPPL.pdf
A case for expanding carrier testing to include actionable X-linked disorders.
Rope AF et al.
Clinical Case Reports, 2018
Mutation analysis in 51 patients with haemophilia A: report of 10 novel mutations and correlations between genotype and clinical phenotype.
Hill M et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2005
Somatic mosaicism in hemophilia A: a fairly common event.
Leuer M et al.
American Journal of Human Genetics, 2001
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