A Novel Splice-Site Mutation in the ELN Gene Suggests an Alternative Mechanism for Vascular Elastinopathies

The ELN gene encodes elastin, a fundamental protein of the extracellular matrix that confers elasticity to different tissues including blood vessels. The formation of elastin fibers is a complex process involving monomer coacervation and subsequent crosslinking. Mutations in exons 1–29 of the ELN ge...

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Detalles Bibliográficos
Autores principales: Velandia-Piedrahita, Camilo Andres, Morel, Adrien, Fonseca-Mendoza, Dora Janeth, Huertas-Quiñones, Victor Manuel, Castillo, David, Bonilla, Juan Diego, Hernandez-Toro, Camilo José, Miranda-Fernández, Marta Catalina, Restrepo, Carlos Martin, Cabrera, Rodrigo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7751611/
https://www.ncbi.nlm.nih.gov/pubmed/33364810
http://dx.doi.org/10.2147/TACG.S282240

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