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Hypertrophic Cardiomyopathy Mutations in MYBPC3 Dysregulate Myosin: Implications for Therapy

The mechanisms by which truncating mutations in MYBPC3 (encoding cardiac myosin binding protein-C; cMyBPC) or myosin missense mutations cause hyper-contractility and poor relaxation in hypertrophic cardiomyopathy (HCM) are incompletely understood. Using genetic and biochemical approaches we explored...

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Detaylı Bibliyografya
Yayımlandı:Sci Transl Med
Asıl Yazarlar: Toepfer, Christopher N., Wakimoto, Hiroko, Garfinkel, Amanda C., McDonough, Barbara, Liao, Dan, Jiang, Jianming, Tai, Angela, Gorham, Josh, Lunde, Ida G., Lun, Mingyue, Lynch, Thomas L., McNamara, James W., Sadayappan, Sakthivel, Redwood, Charles S., Watkins, Hugh, Seidman, Jonathan, Seidman, Christine
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2019
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7184965/
https://ncbi.nlm.nih.gov/pubmed/30674652
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/scitranslmed.aat1199
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