A New Mouse Model for Marfan Syndrome Presents Phenotypic Variability Associated with the Genetic Background and Overall Levels of Fbn1 Expression

Marfan syndrome is an autosomal dominant disease of connective tissue caused by mutations in the fibrillin-1 encoding gene FBN1. Patients present cardiovascular, ocular and skeletal manifestations, and although being fully penetrant, MFS is characterized by a wide clinical variability both within an...

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Detalles Bibliográficos
Autores principales: Lima, Bruno L., Santos, Enrico J. C., Fernandes, Gustavo R., Merkel, Christian, Mello, Marco R. B., Gomes, Juliana P. A., Soukoyan, Marina, Kerkis, Alexandre, Massironi, Silvia M. G., Visintin, José A., Pereira, Lygia V.
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2994728/
https://www.ncbi.nlm.nih.gov/pubmed/21152435
http://dx.doi.org/10.1371/journal.pone.0014136

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