Characterization of Two Novel Intronic Variants Affecting Splicing in FBN1-Related Disorders

FBN1 encodes fibrillin 1, a key structural component of the extracellular matrix, and its variants are associated with a wide range of hereditary connective tissues disorders, such as Marfan syndrome (MFS) and mitral valve–aorta–skeleton–skin (MASS) syndrome. Interpretations of the genomic data and...

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Detalles Bibliográficos
Autores principales: Fusco, Carmela, Morlino, Silvia, Micale, Lucia, Ferraris, Alessandro, Grammatico, Paola, Castori, Marco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6627396/
https://www.ncbi.nlm.nih.gov/pubmed/31185693
http://dx.doi.org/10.3390/genes10060442

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6627396/
https://www.ncbi.nlm.nih.gov/pubmed/31185693
http://dx.doi.org/10.3390/genes10060442

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