Genetic, clinical, molecular, and pathogenic aspects of the South Asian–specific polymorphic MYBPC3(Δ25bp) variant

Hypertrophic cardiomyopathy (HCM) is a cardiac genetic disease characterized by ventricular enlargement, diastolic dysfunction, and increased risk for sudden cardiac death. Sarcomeric genetic defects are the predominant known cause of HCM. In particular, mutations in the myosin-binding protein C gen...

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Bibliografische gegevens
Gepubliceerd in:Biophys Rev
Hoofdauteurs: Arif, Mohammed, Nabavizadeh, Pooneh, Song, Taejeong, Desai, Darshini, Singh, Rohit, Bazrafshan, Sholeh, Kumar, Mohit, Wang, Yigang, Gilbert, Richard J., Dhandapany, Perundurai S., Becker, Richard C., Kranias, Evangelia G., Sadayappan, Sakthivel
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Springer Berlin Heidelberg 2020
Onderwerpen:
Review
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7429610/
https://ncbi.nlm.nih.gov/pubmed/32656747
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12551-020-00725-1
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