Mechanistic basis for the pathogenesis of long QT syndrome associated with a common splicing mutation in KCNQ1 gene.

Mechanistic basis for the pathogenesis of long QT syndrome associated with a common splicing mutation in KCNQ1 gene.

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http://www.wikidata.org/entity/Q48801863
Conformational changes of an ion-channel during gating and emerging electrophysiologic properties: Application of a computational approach to cardiac Kv7.1.Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene.KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1.Characterization of a novel KCNQ1 mutation for type 1 long QT syndrome and assessment of the therapeutic potential of a novel IKs activator using patient-specific induced pluripotent stem cell-derived cardiomyocytes.Mechanisms contributing to myocardial potassium channel diversity, regulation and remodelingA splice site mutation in hERG leads to cryptic splicing in human long QT syndrome.Post-mortem Whole exome sequencing with gene-specific analysis for autopsy-negative sudden unexplained death in the young: a case series.Molecular Pathophysiology of Congenital Long QT Syndrome.Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy.Studying KCNQ1 Mutation and Drug Response in Type 1 Long QT Syndrome Using Patient-Specific Induced Pluripotent Stem Cell-Derived Cardiomyocytes.
P2860

Mechanistic basis for the pathogenesis of long QT syndrome associated with a common splicing mutation in KCNQ1 gene.

Item
http://www.wikidata.org/entity/Q48801863
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年学术文章
@wuu
2007年学术文章
@zh
2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
2007年學術文章
@zh-hant
name
Mechanistic basis for the path ...... licing mutation in KCNQ1 gene.
@en
Mechanistic basis for the path ...... licing mutation in KCNQ1 gene.
@nl
type
label
Mechanistic basis for the path ...... licing mutation in KCNQ1 gene.
@en
Mechanistic basis for the path ...... licing mutation in KCNQ1 gene.
@nl
prefLabel
Mechanistic basis for the path ...... licing mutation in KCNQ1 gene.
@en
Mechanistic basis for the path ...... licing mutation in KCNQ1 gene.
@nl
P1433
P1476
P2093
P304
P31
P356
P433
P478
P577
P698
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P1433
P1476
Mechanistic basis for the path ...... licing mutation in KCNQ1 gene.
@en
P2093
P304
P31
P356
10.1016/J.YJMCC.2006.12.015
P433
P478
P577
P698