- Article
Comprehensive Screening of Genetic Variants in the Coding Region of F8 in Severe Hemophilia A Reveals a Relationship with Disease Severity in a Colombian Cohort
- Samuel Sarmiento Doncel,
- Ronald Guillermo Peláez,
- Pablo Lapunzina,
- Fernando F. Corrales-Medina,
- Gina Alejandra Díaz Mosquera,
- Santiago Bonanad,
- Javier Mauricio Cortes,
- Mario Cazalla,
- Natalia Gallego and
- Felipe Querol-Giner
- + 2 authors
Hemophilia A is an X-linked disorder characterized by quantitative deficiency of coagulation factor VIII (FVIII) caused by pathogenic variants in the factor 8 (F8) gene. Our study’s primary objective was to identify genetic variants within the...

