Reliable and cost-effective approach for diagnosis of heterozygous F8/F9 large deletions by quantitative real-time PCR
Haemophilia A (HA) (OMIM#306700) and haemophilia B (HB) (OMIM#306900) are X-linked disorders characterized by deleterious mutations in coagulation factor VIII (F8) and factor IX (F9) genes respectively. Among these mutations, F8 large deletions cause 8-15% of severe HA (www.factorviii-db.org) and F9...
| Autores: | , , , , , , , |
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| Tipo de recurso: | artículo |
| Estado: | Versión publicada |
| Fecha de publicación: | 2015 |
| País: | Argentina |
| Institución: | Consejo Nacional de Investigaciones Científicas y Técnicas |
| Repositorio: | CONICET Digital (CONICET) |
| Idioma: | inglés |
| OAI Identifier: | oai:ri.conicet.gov.ar:11336/38532 |
| Acceso en línea: | http://hdl.handle.net/11336/38532 |
| Access Level: | acceso abierto |
| Palabra clave: | Hemofilia Grandes Deleciones Heterocigotas Genes F8 y F9 Diagnóstico Molecular https://purl.org/becyt/ford/3.1 https://purl.org/becyt/ford/3 |
| Sumario: | Haemophilia A (HA) (OMIM#306700) and haemophilia B (HB) (OMIM#306900) are X-linked disorders characterized by deleterious mutations in coagulation factor VIII (F8) and factor IX (F9) genes respectively. Among these mutations, F8 large deletions cause 8-15% of severe HA (www.factorviii-db.org) and F9 large deletions 6-13% of severe HB (www.factorix.org/). Molecular diagnosis of F8 or F9 large deletions (F8/F9-LDs) is critically important because these mutations associate with a highly significant predisposition to develop inhibitors against exogenous FVIII or FIX, the most troublesome complication for haemophilia treatment. |
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