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Marfan syndrome: current perspectives

Marfan syndrome (MFS) is a pleiotropic connective tissue disease inherited as an autosomal dominant trait, due to mutations in the FBN1 gene encoding fibrillin 1. It is an important protein of the extracellular matrix that contributes to the final structure of a microfibril. Few cases displaying an...

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Detalles Bibliográficos
Publicado en:Appl Clin Genet
Autores principales: Pepe, Guglielmina, Giusti, Betti, Sticchi, Elena, Abbate, Rosanna, Gensini, Gian Franco, Nistri, Stefano
Formato: Artigo
Lenguaje:Inglês
Publicado: Dove Medical Press 2016
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4869846/
https://ncbi.nlm.nih.gov/pubmed/27274304
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/TACG.S96233
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