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

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

Camilo Andres Velandia-Piedrahita,1 Adrien Morel,2,* Dora Janeth Fonseca-Mendoza,2,* Victor Manuel Huertas-Quiñones,3– 5 David Castillo,6 Juan Diego Bonilla,7 Camilo José Hernandez-Toro,1 Marta Catalina Miranda-Fernández,1 Carlos Martin Restrepo,2 Rodrigo C...

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Bibliographic Details
Main Authors: Velandia-Piedrahita CA, Morel A, Fonseca-Mendoza DJ, Huertas-Quiñones VM, Castillo D, Bonilla JD, Hernandez-Toro CJ, Miranda-Fernández MC, Restrepo CM, Cabrera R
Format: Article
Language:English
Published: Dove Medical Press 2020-12-01
Series:The Application of Clinical Genetics
Subjects:
svas
eln
adcl
coacervation
splicing
Online Access:https://www.dovepress.com/a-novel-splice-site-mutation-in-the-eln-gene-suggests-an-alternative-m-peer-reviewed-article-TACG

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