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Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections

Mutations in the gene encoding smooth muscle cell alpha actin (ACTA2) have recently been shown to cause familial thoracic aortic aneurysms leading to type A dissections (TAAD) and predispose to premature stroke and coronary artery disease. In order to further explore the role of ACTA2 variations in...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: Hoffjan, Sabine, Waldmüller, Stephan, Blankenfeldt, Wulf, Kötting, Judith, Gehle, Petra, Binner, Priska, Epplen, Joerg T, Scheffold, Thomas
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2011
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3083620/
https://ncbi.nlm.nih.gov/pubmed/21248741
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.239
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