Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease. Variants in MYBPC3, the gene encoding cardiac myosin-binding protein C (cMyBP-C), are the leading cause of HCM. However, the pathogenicity status of hundreds of MYBPC3 variants found in patients remains unknown, as a con...

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Pubblicato in:J Biol Chem
Autori principali: Suay-Corredera, Carmen, Pricolo, Maria Rosaria, Herrero-Galán, Elías, Velázquez-Carreras, Diana, Sánchez-Ortiz, David, García-Giustiniani, Diego, Delgado, Javier, Galano-Frutos, Juan José, García-Cebollada, Helena, Vilches, Silvia, Domínguez, Fernando, Molina, María Sabater, Barriales-Villa, Roberto, Frisso, Giulia, Sancho, Javier, Serrano, Luis, García-Pavía, Pablo, Monserrat, Lorenzo, Alegre-Cebollada, Jorge
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society for Biochemistry and Molecular Biology 2021
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC8260873/
https://ncbi.nlm.nih.gov/pubmed/34097875
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jbc.2021.100854
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