Data on the role of cardiac α-actin (ACTC1) gene mutations on SRF-signaling

We recently reported a novel, heterozygous, and non-synonymous ACTC1 mutation (p.Gly247Asp or G247D) in a large, multi-generational family, causing atrial-septal defect followed by late-onset dilated cardiomyopathy (DCM). We also found that the G247D ACTC1 mutation negatively regulated serum respons...

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Detalles Bibliográficos
Autores principales: Rangrez, Ashraf Yusuf, Kilian, Lucia, Stiebeling, Katharina, Dittmann, Sven, Yadav, Pankaj, Schulze-Bahr, Eric, Frey, Norbert, Frank, Derk
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Genetics, Genomics and Molecular Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6950782/
https://www.ncbi.nlm.nih.gov/pubmed/31921954
http://dx.doi.org/10.1016/j.dib.2019.105071

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6950782/
https://www.ncbi.nlm.nih.gov/pubmed/31921954
http://dx.doi.org/10.1016/j.dib.2019.105071

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