Camilo Andres Velandia-Piedrahita Adrien Morel Dora Janeth Fonseca-Mendoza Victor Manuel Huertas-Quiñones David Castillo Juan Diego Bonilla Camilo José Hernandez-Toro Marta Catalina Miranda-Fernández Carlos Martin Restrepo Rodrigo Cabrera
10.2147/TACG.S282240
Appl Clin Genet
2020 Dec 17;13:233-240.
adcl eln svas coacervation splicing
CC BY-NC
https://pubmed.ncbi.nlm.nih.gov/33364810/
Case Reports
PMC7751611
33364810
A Novel Splice-Site Mutation in the ELN Gene Suggests an Alternative Mechanism for Vascular Elastinopathies
2020