Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy

Pathogenic variants in MYBPC3, encoding cardiac MyBP-C (myosin binding protein C), are the most common cause of familial hypertrophic cardiomyopathy. A large number of unique MYBPC3 variants and relatively small genotyped hypertrophic cardiomyopathy cohorts have precluded detailed genotype-phenotype...

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Detalhes bibliográficos
Publicado no:Circ Genom Precis Med
Main Authors: Helms, Adam S., Thompson, Andrea D., Glazier, Amelia A., Hafeez, Neha, Kabani, Samat, Rodriguez, Juliani, Yob, Jaime M., Woolcock, Helen, Mazzarotto, Francesco, Lakdawala, Neal K., Wittekind, Samuel G., Pereira, Alexandre C., Jacoby, Daniel L., Colan, Steven D., Ashley, Euan A., Saberi, Sara, Ware, James S., Ingles, Jodie, Semsarian, Christopher, Michels, Michelle, Olivotto, Iacopo, Ho, Carolyn Y., Day, Sharlene M.
Formato: Artigo
Idioma:Inglês
Publicado em: Lippincott Williams & Wilkins 2020
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7676622/
https://ncbi.nlm.nih.gov/pubmed/32841044
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/CIRCGEN.120.002929
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