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Dominant-Negative Effect of a Missense Variant in the TASK-2 (KCNK5) K(+) Channel Associated with Balkan Endemic Nephropathy

TASK-2, a member of the Two-Pore Domain (K2P) subfamily of K(+) channels, is encoded by the KCNK5 gene. The channel is expressed primarily in renal epithelial tissues and a potentially deleterious missense variant in KCNK5 has recently been shown to be prevalent amongst patients predisposed to the d...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:PLoS One
Κύριοι συγγραφείς: Reed, Alan P., Bucci, Giovanna, Abd-Wahab, Firdaus, Tucker, Stephen J.
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Public Library of Science 2016
Θέματα:
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4882002/
https://ncbi.nlm.nih.gov/pubmed/27228168
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0156456
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