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De novo and inherited variants in coding and regulatory regions in genetic cardiomyopathies

BACKGROUND: Cardiomyopathies are a leading cause of progressive heart failure and sudden cardiac death; however, their genetic aetiology remains poorly understood. We hypothesised that variants in noncoding regulatory regions and oligogenic inheritance mechanisms may help close the diagnostic gap. M...

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Detalles Bibliográficos
Autores principales: Vadgama, Nirmal, Ameen, Mohamed, Sundaram, Laksshman, Gaddam, Sadhana, Gifford, Casey, Nasir, Jamal, Karakikes, Ioannis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9647983/
https://www.ncbi.nlm.nih.gov/pubmed/36357925
http://dx.doi.org/10.1186/s40246-022-00420-0