New mutation in the ACTA2 gene (p.Met84Val) in a family with nonsyndromic familial aortic aneurysms

Rev Esp Cardiol (Engl Ed). 2020 Apr;73(4):334-335. doi: 10.1016/j.rec.2019.09.021. Epub 2019 Dec 24.

[Article in English, Spanish]

Authors

Benjamín Roque Rodríguez¹, María Victoria Mogollón Jiménez², Lorenzo Monserrat³, Luis Enrique Lezcano Gort², Zineb Kounka², José Javier Gómez Barrado²

Affiliations

¹ Departamento de Cardiología, Complejo Hospitalario Universitario de Cáceres, Cáceres, Spain. Electronic address: benjarroo@hotmail.com.
² Departamento de Cardiología, Complejo Hospitalario Universitario de Cáceres, Cáceres, Spain.
³ Instituto de Investigación Biomédica de A Coruña (INIBIC), A Coruña, Spain; Departamento Científico, Health in Code S.L., A Coruña, Spain.

PMID: 31879232
DOI: 10.1016/j.rec.2019.09.021

No abstract available

Publication types

Letter

MeSH terms

Actins / genetics*
Actins / metabolism
Adult
Aortic Aneurysm, Thoracic / genetics*
Aortic Aneurysm, Thoracic / metabolism
Aortic Dissection / genetics*
Aortic Dissection / metabolism
DNA / genetics*
DNA Mutational Analysis
Female
Humans
Male
Mutation*
Pedigree

Substances

ACTA2 protein, human
Actins
DNA

Supplementary concepts

Aortic Aneurysm, Familial Thoracic 1