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

Authors :: Roque Rodríguez B
Mogollón Jiménez MV
Monserrat L
Lezcano Gort LE
Kounka Z
Gómez Barrado JJ
Source :: Revista espanola de cardiologia (English ed.) [Rev Esp Cardiol (Engl Ed)] 2020 Apr; Vol. 73 (4), pp. 334-335. Date of Electronic Publication: 2019 Dec 24.
Publication Year :: 2020

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

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