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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Detaylı Bibliyografya
Yayımlandı:Circ Genom Precis Med
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Lippincott Williams & Wilkins 2020
Konular:
Original Articles
Online Erişim: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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