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Variabilidad fenotípica del síndrome de Marfan en una familia con una nueva mutación en el gen FBN1 / Phenotypic variability in Marfan syndrome in a family with a novel nonsense FBN1 gene mutation
Díaz de Bustamante, Aránzazu; Ruiz-Casares, Eva; Darnaude, M Teresa; Perucho, Teresa; Martínez-Quesada, Gabriel.
Affiliation
  • Díaz de Bustamante, Aránzazu; Hospital Universitario de Móstoles. Madrid. España
  • Ruiz-Casares, Eva; Genyca Innova. Majadahonda. España
  • Darnaude, M Teresa; Hospital Universitario de Móstoles. Madrid. España
  • Perucho, Teresa; Genyca Innova. Majadahonda. España
  • Martínez-Quesada, Gabriel; Hospital Universitario de Móstoles. Móstoles. España
Rev. esp. cardiol. (Ed. impr.) ; 65(4): 380-381, abr. 2012. ilus
Article in Spanish | IBECS | ID: ibc-99690
Responsible library: ES1.1
Localization: BNCS
RESUMEN
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Subject(s)
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Collection: National databases / Spain Database: IBECS Main subject: Polymorphism, Genetic / Prenatal Diagnosis / Suppression, Genetic / Heart Defects, Congenital / Heart Diseases / Marfan Syndrome / Molecular Biology / Mutation Type of study: Diagnostic study Limits: Female / Humans / Male Language: Spanish Journal: Rev. esp. cardiol. (Ed. impr.) Year: 2012 Document type: Article Institution/Affiliation country: Genyca Innova/España / Hospital Universitario de Móstoles/España
Search on Google
Add to My VHL
Print
XML
Collection: National databases / Spain Database: IBECS Main subject: Polymorphism, Genetic / Prenatal Diagnosis / Suppression, Genetic / Heart Defects, Congenital / Heart Diseases / Marfan Syndrome / Molecular Biology / Mutation Type of study: Diagnostic study Limits: Female / Humans / Male Language: Spanish Journal: Rev. esp. cardiol. (Ed. impr.) Year: 2012 Document type: Article Institution/Affiliation country: Genyca Innova/España / Hospital Universitario de Móstoles/España