A Missense Variation in PHACTR2 Associates with Impaired Actin Dynamics, Dilated Cardiomyopathy, and Left Ventricular Non-Compaction in Humans

Dilated cardiomyopathy (DCM) with left ventricular non-compaction (LVNC) is a primary myocardial disease leading to contractile dysfunction, progressive heart failure, and excessive risk of sudden cardiac death. Using whole-exome sequencing to investigate a possible genetic cause of DCM with LVNC in...

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Detalles Bibliográficos
Autores principales: Majdalani, Pierre, Levitas, Aviva, Krymko, Hanna, Slanovic, Leonel, Braiman, Alex, Hadad, Uzi, Dabsan, Salam, Horev, Amir, Zarivach, Raz, Parvari, Ruti
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9864900/
https://www.ncbi.nlm.nih.gov/pubmed/36674904
http://dx.doi.org/10.3390/ijms24021388

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9864900/
https://www.ncbi.nlm.nih.gov/pubmed/36674904
http://dx.doi.org/10.3390/ijms24021388

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