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RNA Splicing Defects in Hypertrophic Cardiomyopathy: Implications for Diagnosis and Therapy

Hypertrophic cardiomyopathy (HCM), the most common inherited heart disease, is predominantly caused by mutations in genes that encode sarcomere-associated proteins. Effective gene-based diagnosis is critical for the accurate clinical management of patients and their family members. However, the intr...

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Detalles Bibliográficos
Autores principales: Ribeiro, Marta, Furtado, Marta, Martins, Sandra, Carvalho, Teresa, Carmo-Fonseca, Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7072897/
https://www.ncbi.nlm.nih.gov/pubmed/32079122
http://dx.doi.org/10.3390/ijms21041329