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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Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Circ Genom Precis Med
Päätekijät: 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.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Lippincott Williams & Wilkins 2020
Aiheet:
Original Articles
Linkit: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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