Article
Molecular diagnosis of hemophilia A and B. Report of five families from Costa Rica.
Revista de biologia tropical - 1 Sept 2004
Salazar-Sánchez Lizbeth, Jiménez-Cruz Guillermo, Chaverri Pilar, Schröder Winnie, Wulff Karin, Jiménez-Arce Gerardo, Sandoval Miriam, Ramírez Patricia, Herrmann F H
Abstract excerpt
Hemophilia A and B are X-chromosome linked bleeding disorders caused by deficiency of the respective coagulation factor VIII and IX. Affected individuals develop a variable phenotype of hemorrhage caused by a broad range of mutations within the Factor VIII or Factor IX gene. Here, were report the results of the molecular diagnosis in a five Costa Rican families affected with Hemophilia. Methods of indirect and...
Topics
- Blotting, Southern
- Costa Rica
- Factor IX
- Factor VIII
- Female
- Genetic Markers
- Hemophilia A
- Hemophilia B
- Humans
- Male
- Mutation
- Pedigree
- Polymerase Chain Reaction