Associated Papers
Ribosomal read through as an alternative therapy for patients with hemophilia with nonsense mutations.
Liu Z et al.
Journal of Thrombosis and Haemostasis : Jth, 2026
Spectrum of Factor VIII Gene Variants in 78 Patients with Hemophilia A in Guangxi Province, China, Including Nine Novel Variants: A Descriptive Study
Jiang J et al.
Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2025
Hybridization capture long-read sequencing and de novo assembly of homologous haplotypes: a comprehensive hemophilia test.
Liu B et al.
Blood Advances, 2025
Mutational Profile in Romanian Patients with Hemophilia A.
Grigore A et al.
International Journal of Molecular Sciences, 2024
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
Variant spectrum of F8 and F9 in hemophilia patients from southern China and 26 novel variants.
Li F et al.
Frontiers in Genetics, 2023
The Spectrum of Pathogenic Variants in Iranian Families with Hemophilia A.
Azadmehr S et al.
Archives of Iranian Medicine, 2021
Spectrum of F8 Genotype and Genetic Impact on Inhibitor Development in Patients with Hemophilia A from Multicenter Cohort Studies (J-HIS) in Japan.
Shinozawa K et al.
Thrombosis and Haemostasis, 2021
Factor 8 Gene Mutation Spectrum of 270 Patients with Hemophilia A: Identification of 36 Novel Mutations
Atik T et al.
Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2020
A decreased and less sustained desmopressin response in hemophilia A carriers contributes to bleeding.
Candy V et al.
Blood Advances, 2018
Development of a common platform for the noninvasive prenatal diagnosis of X-linked diseases.
Jang SS et al.
Prenatal Diagnosis, 2018
Spectrum and origin of mutations in sporadic cases of haemophilia A in China.
Lu Y et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2018
Spectrum of F8 gene mutations in haemophilia A patients from Slovenia.
Debeljak M et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2012
Spectrum of F8 gene mutations in haemophilia A patients from a region of Italy: identification of 23 new mutations.
Riccardi F et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2010
Prenatal diagnosis of haemophilia A in China.
Liang Y et al.
Prenatal Diagnosis, 2009
Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRM.
Lin SY et al.
Bmc Medical Genetics, 2008
F8 gene mutation profile and ITT response in a cohort of Italian haemophilia A patients with inhibitors.
Salviato R et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2007
DNA microarray analysis for the detection of mutations in hemophilia A.
Berber E et al.
Journal of Thrombosis and Haemostasis : Jth, 2006
[Value of several genetic markers in detecting heterozygous carriers of a gene for hemophilia A].
Tokarev IuN et al.
Problemy Gematologii I Perelivaniia Krovi, 1977