Associated Papers
An intronic RNA element modulates Factor VIII exon-16 splicing.
Tse V et al.
Nucleic Acids Research, 2024
37962303 (PubMed )
Supplement: gkad1034_supplemental_files.zip › Supplemental_Table_1.xlsx › Sheet1
The Spectrum of Pathogenic Variants in Iranian Families with Hemophilia A.
Azadmehr S et al.
Archives of Iranian Medicine, 2021
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
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
First report of molecular diagnosis of Tunisian hemophiliacs A: identification of 8 novel causative mutations.
Elmahmoudi H et al.
Diagnostic Pathology, 2012
Spectrum of molecular defects and mutation detection rate in patients with severe hemophilia A.
Bogdanova N et al.
Human Mutation, 2005
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