Description of a Cohort with a New Truncating MYBPC3 Variant for Hypertrophic Cardiomyopathy in Northern Spain

Background: The pathogenicity of the different genetic variants causing hypertrophic cardiomyopathy (HCM) and the genotype/phenotype correlations are difficult to assess in clinical practice, as most mutations are unique or identified in non-informative families. Pathogenic variants in the sarcomeri...

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Detalles Bibliográficos
Autores principales: Fernández Suárez, Natalia, Viadero Ubierna, María Teresa, Garde Basas, Jesús, Onecha de la Fuente, María Esther, Amigo Lanza, María Teresa, Martin Gorria, Gonzalo, Rivas Pérez, Adrián, Ruiz Guerrero, Luis, González-Lamuño, Domingo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10137663/
https://www.ncbi.nlm.nih.gov/pubmed/37107598
http://dx.doi.org/10.3390/genes14040840

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10137663/
https://www.ncbi.nlm.nih.gov/pubmed/37107598
http://dx.doi.org/10.3390/genes14040840

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