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Undescribed mutations in FBN1 gene in two family cases of Marfan syndrome

Marfan syndrome (MFS) is a multisystem autosomal dominant heritable disorder and, although there are over 1700 mutations that have been identified in the fibrillin-1 (FBN1) gene associated with it, there are many variants that remain unknown. Here we report two family cases of MFS with two new undes...

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Detalhes bibliográficos
Publicado no:J Cardiol Cases
Main Authors: Cabrera-Bueno, Fernando, Fernandez-Rosado, Francisco, Alvarez-Cubero, Maria Jesus, Martinez-Espin, Esther, Entrala-Bernal, Carmen
Formato: Artigo
Idioma:Inglês
Publicado em: Japanese College of Cardiology 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6279638/
https://ncbi.nlm.nih.gov/pubmed/30534251
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jccase.2014.08.007
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