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Two new mutations in the LYST/CHS1 gene in patients with chediak-higashi syndrome. First case of a missense mutation in a case of severe childhood Chediak-Higashi
dc.contributor.author | Couselo Sánchez, José Miguel | |
dc.date.accessioned | 2017-06-07T07:28:03Z | |
dc.date.available | 2017-06-07T07:28:03Z | |
dc.date.issued | 2011 | |
dc.identifier.issn | 1538-7933 | |
dc.identifier.uri | http://hdl.handle.net/20.500.11940/6790 | |
dc.language.iso | eng | |
dc.title | Two new mutations in the LYST/CHS1 gene in patients with chediak-higashi syndrome. First case of a missense mutation in a case of severe childhood Chediak-Higashi | |
dc.type | Publicación de congreso | |
dc.authorsophos | A.I., Anton | |
dc.authorsophos | I., Sanchez-Guiu | |
dc.authorsophos | J., Navarro-Fernandez | |
dc.authorsophos | J.L., Fuster | |
dc.authorsophos | J.M., Couselo | |
dc.authorsophos | C., Martinez | |
dc.authorsophos | V., Vicente | |
dc.authorsophos | J., Rivera | |
dc.authorsophos | M.L., Lozano | |
dc.identifier.doi | http://dx.doi.org/10.1111/j.1538-7836.2011.04380_4.x | |
dc.identifier.sophos | 11287 | |
dc.journal.title | JOURNAL OF THROMBOSIS AND HAEMOSTASIS | |
dc.organization | Servizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::EOXI de Santiago - Complexo Hospitalario Universitario de Santiago::Pediatría | |
dc.rights.accessRights | openAccess | |
dc.typesophos | Comunicaciones a congresos | |
dc.volume.number | 9 |
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