Associated Papers
F8 Variants and Inhibitor Development in a Multiethnic Cohort of Nonsevere Haemophilia A.
Lim MY et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2025
Deleterious variants cluster in the A3 domain of factor VIII in people with severe hemophilia A and inhibitors.
Zuccherato LW et al.
Research and Practice in Thrombosis and Haemostasis, 2025
Real-World Evidence on Joint Condition in Non-Severe Hemophilia A Patients: A Multicenter Study.
Marco-Rico A et al.
Journal of Blood Medicine, 2025
An intronic RNA element modulates Factor VIII exon-16 splicing.
Tse V et al.
Nucleic Acids Research, 2024
Replacing the SpCas9 HNH domain by deaminases generates compact base editors with an alternative targeting scope.
Villiger L et al.
Molecular Therapy. Nucleic Acids, 2021
Variable readthrough responsiveness of nonsense mutations in hemophilia A.
Martorell L et al.
Haematologica, 2020
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
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
Mutational Profiles of F8 and F9 in a Cohort of Haemophilia A and Haemophilia B Patients in the Multi-ethnic Malaysian Population.
Zahari M et al.
Mediterranean Journal of Hematology and Infectious Diseases, 2018
Identification of deep intronic individual variants in patients with hemophilia A by next-generation sequencing of the whole factor VIII gene.
Inaba H et al.
Research and Practice in Thrombosis and Haemostasis, 2017
Variation in baseline factor VIII concentration in a retrospective cohort of mild/moderate hemophilia A patients carrying identical F8 mutations.
Loomans JI et al.
Journal of Thrombosis and Haemostasis : Jth, 2017
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
Detection of new mutations and molecular pathology of mild and moderate haemophilia A patients from southern Brazil.
Rosset C et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2013
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
Spectrum of mutations in Albanian patients with haemophilia A: identification of ten novel mutations in the factor VIII gene.
Castaman G et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2007
[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
Prenatal diagnosis and genetic analysis of novel missense mutation in FVIII gene.
Guo Y et al.
Zhong Nan Da Xue Xue Bao. Yi Xue Ban = Journal of Central South University. Medical Sciences, 0