A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome

Marfan syndrome (MFS) is an autosomal dominantly inherited connective tissue disorder, mostly caused by mutations in the fibrillin-1 (FBN1) gene. We, by using targeted next-generation sequence analysis, identified a novel intronic FBN1 mutation (the c.2678-15C>A variant) in a MFS patient with aor...

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Detalles Bibliográficos
Autores principales: Torrado, Mario, Maneiro, Emilia, Trujillo-Quintero, Juan Pablo, Evangelista, Arturo, Mikhailov, Alexander T., Monserrat, Lorenzo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5996431/
https://www.ncbi.nlm.nih.gov/pubmed/30003093
http://dx.doi.org/10.1155/2018/3536495

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