Associated Papers
The Spectrum of Pathogenic Variants in Iranian Families with Hemophilia A.
Azadmehr S et al.
Archives of Iranian Medicine, 2021
Identification of six novel factor viii gene variants using next generation sequencing and molecular dynamics simulation.
Al-Allaf FA et al.
Acta Biochimica Polonica, 2019
A novel synonymous variant in the F8 gene, p.(Leu40=)/c.120C>A, likely causes mild haemophilia A.
Inaba H et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2018
Prediction of factor VIII inhibitor development in the SIPPET cohort by mutational analysis and factor VIII antigen measurement.
Spena S et al.
Journal of Thrombosis and Haemostasis : Jth, 2018
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
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
Deep intronic 'mutations' cause hemophilia A: application of next generation sequencing in patients without detectable mutation in F8 cDNA.
Pezeshkpoor B et al.
Journal of Thrombosis and Haemostasis : Jth, 2013
Sequence variation data of F8 and F9 genes in functionally validated control individuals: implications on the molecular diagnosis of hemophilia.
Seo JY et al.
Blood Research, 2013
Identification of novel mutations in exon 14 of the f8 gene in malaysian patients with severe hemophilia a.
Moses EJ et al.
Indian Journal of Clinical Biochemistry : Ijcb, 2012
Inhibitor development in two patients with mild haemophilia A - spontaneous disappearance and no recurrence of the inhibitor after re-challenge.
Reitter-Pfoertner S et al.
Wiener Klinische Wochenschrift, 2012
Molecular diagnosis of haemophilia A at Centro Hospitalar de Coimbra in Portugal: study of 103 families--15 new mutations.
Silva Pinto C et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2012
p.Tyr365Cys change in factor VIII: haemophilia A, but not as we know it.
Bowyer AE et al.
British Journal of Haematology, 2011
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
Utility of an exon 14 BslI polymorphism for improved genetic diagnosis of hemophilia A in Indian population.
Mukundan P et al.
Prenatal Diagnosis, 2008
Severe and moderate hemophilia A: identification of 38 new genetic alterations.
Casaña P et al.
Haematologica, 2008
Molecular analysis of F8 in Lebanese haemophilia A patients: novel mutations and phenotype-genotype correlation.
Djambas Khayat C et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2008
Sequencing of the factor 8(F8) coding regions in 10 Turkish hemophilia A patients reveals three novel pathological mutations, and one rediagnosis of von Willebrand's disease type 2N.
Berber E et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2006
Homeologous recombination between AluSx-sequences as a cause of hemophilia.
Rossetti LC et al.
Human Mutation, 2004