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Novel long QT syndrome-associated missense mutation, L762F, in CACNA1C-encoded L-type calcium channel imparts a slower inactivation tau and increased sustained and window current

BACKGROUND: Mutations in the CACNA1C-encoded L-type calcium channel have been associated with Timothy syndrome (TS) with severe QT prolongation, syndactyly, facial dysmorphisms, developmental delay, and sudden death. Recently, patients hosting CACNA1C mutations with only long QT syndrome (LQTS) have...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Int J Cardiol
Päätekijät: Landstrom, Andrew P., Boczek, Nicole J., Ye, Dan, Miyake, Christina Y., De la Uz, Caridad M., Allen, Hugh D., Ackerman, Michael J., Kim, Jeffrey J.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2016
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC6311393/
https://ncbi.nlm.nih.gov/pubmed/27390944
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ijcard.2016.06.081
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