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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Detaylı Bibliyografya
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Public Library of Science 2010
Konular:
Research Article
Online Erişim: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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