Molecular characterization of hemophilia B patients in Colombia.
Yolima A Parrado JaraLuz Karime YunisAdriana Linares BallesterosJuan José YunisPublished in: Molecular genetics & genomic medicine (2020)
This molecular analysis allowed us to establish the causal variant of HB in 100% of patients, to provide the appropriate genetic counseling to each of the families, and to propose a more cost-effective carrier analysis. Here, we reported the first variants in Colombian population with Hemophilia B, finding a new variant and one intron recurrent variant present in 35% of patients.