Enhancing the Predictive Power of Mutations in the C-Terminus of the KCNQ1-Encoded Kv7.1 Voltage-Gated Potassium Channel

Despite the overrepresentation of Kv7.1 mutations among patients with a robust diagnosis of LQTS, a background rate of innocuous Kv7.1 missense variants observed in healthy controls creates ambiguity in the interpretation of LQTS genetic test results. A recent study showed the probability of pathoge...

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Pubblicato in:J Cardiovasc Transl Res
Autori principali: Kapplinger, Jamie D., Tseng, Andrew S., Salisbury, Benjamin A., Tester, David J., Callis, Thomas E., Alders, Marielle, Wilde, Arthur A.M., Ackerman, Michael J.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2015
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4907365/
https://ncbi.nlm.nih.gov/pubmed/25854863
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12265-015-9622-8
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