Establishing disease causality for a novel gene variant in familial dilated cardiomyopathy using a functional in-vitro assay of regulated thin filaments and human cardiac myosin

BACKGROUND: As next generation sequencing for the genetic diagnosis of cardiovascular disorders becomes more widely used, establishing causality for putative disease causing variants becomes increasingly relevant. Diseases of the cardiac sarcomere provide a particular challenge in this regard becaus...

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Detalles Bibliográficos
Autores principales: Pan, Stephen, Sommese, Ruth F., Sallam, Karim I., Nag, Suman, Sutton, Shirley, Miller, Susan M., Spudich, James A., Ruppel, Kathleen M., Ashley, Euan A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4620603/
https://www.ncbi.nlm.nih.gov/pubmed/26498512
http://dx.doi.org/10.1186/s12881-015-0243-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4620603/
https://www.ncbi.nlm.nih.gov/pubmed/26498512
http://dx.doi.org/10.1186/s12881-015-0243-5

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