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A CACNA1C Variant Associated with Reduced Voltage-Dependent Inactivation, Increased Ca(V)1.2 Channel Window Current, and Arrhythmogenesis
Mutations in CACNA1C that increase current through the Ca(V)1.2 L-type Ca(2+) channel underlie rare forms of long QT syndrome (LQTS), and Timothy syndrome (TS). We identified a variant in CACNA1C in a male child of Filipino descent with arrhythmias and extracardiac features by candidate gene sequenc...
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| Asıl Yazarlar: | , , , , , , , , , , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Public Library of Science
2014
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4153713/ https://ncbi.nlm.nih.gov/pubmed/25184293 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0106982 |
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