Molecular diagnosis of hemophilia A and B. Report of five families from Costa Rica

dc.creatorSalazar-Sánchez,Lizbeth
dc.creatorJiménez-Cruz,Guillermo
dc.creatorChaverri,Pilar
dc.creatorSchröder,Winnie
dc.creatorWulff,Karin
dc.creatorJiménez-Arce,Gerardo
dc.creatorSandoval,Miriam
dc.creatorRamírez,Patricia
dc.creatorHerrmann,F.H
dc.date2004-09-01
dc.date.accessioned2023-09-25T14:00:59Z
dc.date.available2023-09-25T14:00:59Z
dc.identifierhttp://www.scielo.sa.cr/scielo.php?script=sci_arttext&pid=S0034-77442004000300013
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/8810531
dc.descriptionHemophilia Aand 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 direct molecular diagnosis are applied in three Hemophilia A and two Hemophilia B families from Costa Rica as well as preconditions, practicability and facilities of this diagnosis. In two families with Hemophilia A and both families with Hemophilia B the causative mutation could be detected by Southern blotting, polymerase chain reaction or sequence analysis. One Hemophilia A family could only analyzed by linkage analysis using genomic markers. Rev. Biol. Trop. 52(3): 521-530. Epub 2004 Dic 15.
dc.formattext/html
dc.languageen
dc.publisherUniversidad de Costa Rica
dc.rightsinfo:eu-repo/semantics/openAccess
dc.sourceRevista de Biología Tropical v.52 n.3 2004
dc.subjectHemophilia A
dc.subjectHemophilia B
dc.subjectfactor IX
dc.subjectfactor VIII
dc.subjectmolecular diagnosis
dc.subjectcarrier detection
dc.titleMolecular diagnosis of hemophilia A and B. Report of five families from Costa Rica
dc.typeinfo:eu-repo/semantics/article


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