Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree

The finding of a genotype-negative hypertrophic cardiomyopathy (HCM) pedigree with several affected members indicating a familial origin of the disease has driven this study to discover causative gene variants. Genetic testing of the proband and subsequent family screening revealed the presence of a...

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Detalles Bibliográficos
Autores principales: Torrado, Mario, Maneiro, Emilia, Lamounier Junior, Arsonval, Fernández-Burriel, Miguel, Sánchez Giralt, Sara, Martínez-Carapeto, Ana, Cazón, Laura, Santiago, Elisa, Ochoa, Juan Pablo, McKenna, William J., Santomé, Luis, Monserrat, Lorenzo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9068804/
https://www.ncbi.nlm.nih.gov/pubmed/35508642
http://dx.doi.org/10.1038/s41598-022-11159-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9068804/
https://www.ncbi.nlm.nih.gov/pubmed/35508642
http://dx.doi.org/10.1038/s41598-022-11159-y

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