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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Hauptverfasser: 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.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Public Library of Science 2010
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Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2994728/
https://ncbi.nlm.nih.gov/pubmed/21152435
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0014136
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