Enhancing the Predictive Power of Mutations in the C-Terminus of the KCNQ1-Encoded Kv7.1 Voltage-Gated Potassium Channel.
about
Inaccurate diagnosis of Brugada syndrome in a healthy woman based on SCN5A mutation classification.Re-evaluating pathogenicity of variants associated with the long QT syndrome.Mechanisms of KCNQ1 channel dysfunction in long QT syndrome involving voltage sensor domain mutations.Even pore-localizing missense variants at highly conserved sites in KCNQ1-encoded Kv7.1 channels may have wild-type function and not cause type 1 long QT syndrome: Do not rely solely on the genetic test company's interpretation.
P2860
Enhancing the Predictive Power of Mutations in the C-Terminus of the KCNQ1-Encoded Kv7.1 Voltage-Gated Potassium Channel.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 09 April 2015
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Enhancing the Predictive Power ...... ltage-Gated Potassium Channel.
@en
Enhancing the Predictive Power ...... ltage-Gated Potassium Channel.
@nl
type
label
Enhancing the Predictive Power ...... ltage-Gated Potassium Channel.
@en
Enhancing the Predictive Power ...... ltage-Gated Potassium Channel.
@nl
prefLabel
Enhancing the Predictive Power ...... ltage-Gated Potassium Channel.
@en
Enhancing the Predictive Power ...... ltage-Gated Potassium Channel.
@nl
P2093
P2860
P1476
Enhancing the Predictive Power ...... ltage-Gated Potassium Channel.
@en
P2093
Andrew S Tseng
Benjamin A Salisbury
David J Tester
Jamie D Kapplinger
Marielle Alders
Michael J Ackerman
Thomas E Callis
P2860
P2888
P304
P356
10.1007/S12265-015-9622-8
P407
P577
2015-04-09T00:00:00Z