Identification of a novel pathogenic variant in FBN1 associated with Marfan syndrome

Aortic diseases arising in Marfan syndrome (MFS), such as in aneurysms and dissections of the thoracic aorta, are related to genetic alterations in the FBN1 gene. Databases, such as Universal Mutations-FBN1, ClinVar, and The Human Gene Mutation, contain more than a thousand FBN1 mutations associated...

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Detalles Bibliográficos
Autores principales: Pereira, Julia P., Ferreira, Juliana R., Botelho, Anna Paula A., Melo, Marcelo M., Dias, Glauber M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2022
Materias:
Rapid Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9235843/
https://www.ncbi.nlm.nih.gov/pubmed/35589387
http://dx.doi.org/10.1101/mcs.a006215

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9235843/
https://www.ncbi.nlm.nih.gov/pubmed/35589387
http://dx.doi.org/10.1101/mcs.a006215

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