Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome.
about
Molecular pathogenesis of long QT syndrome type 1High-risk long QT syndrome mutations in the Kv7.1 (KCNQ1) pore disrupt the molecular basis for rapid K(+) permeationClinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene.Use of mutant-specific ion channel characteristics for risk stratification of long QT syndrome patients.Long QT syndrome in South Africa: the results of comprehensive genetic screening.Genotype-phenotype aspects of type 2 long QT syndrome.Genetics of sudden cardiac death.Recent progress in congenital long QT syndromeGenotype- and mutation site-specific QT adaptation during exercise, recovery, and postural changes in children with long-QT syndrome.Management of long QT syndrome.KCNQ1 and KCNE1 in the IKs channel complex make state-dependent contacts in their extracellular domains.Mutations in cytoplasmic loops of the KCNQ1 channel and the risk of life-threatening events: implications for mutation-specific response to β-blocker therapy in type 1 long-QT syndrome.Importance of Knowing the Genotype and the Specific Mutation When Managing Patients with Long QT Syndrome.Gating-related molecular motions in the extracellular domain of the IKs channel: implications for IKs channelopathy.An allosteric mechanism for drug block of the human cardiac potassium channel KCNQ1.Phenotype-driven molecular autopsy for sudden cardiac death.Long QT syndrome: from channels to cardiac arrhythmias.High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders.Clinical course and risk stratification of patients affected with the Jervell and Lange-Nielsen syndrome.Genetic investigation of 100 heart genes in sudden unexplained death victims in a forensic setting.Whole blood RNA offers a rapid, comprehensive approach to genetic diagnosis of cardiovascular diseases.
P2860
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P2860
Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome.
description
2003 nî lūn-bûn
@nan
2003 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2003年の論文
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2003年学术文章
@wuu
2003年学术文章
@zh-cn
2003年学术文章
@zh-hans
2003年学术文章
@zh-my
2003年学术文章
@zh-sg
2003年學術文章
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name
Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome.
@ast
Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome.
@en
type
label
Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome.
@ast
Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome.
@en
prefLabel
Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome.
@ast
Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome.
@en
P2093
P2860
P50
P1476
Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome.
@en
P2093
Arthur J Moss
Elizabeth S Kaufman
G Michael Vincent
Gloria Sheu
International LQTS Registry, University of Rochester, Rochester, New York
Jennifer L Robinson
Jesaia Benhorin
Mark L Andrews
Mark T Keating
P2860
P304
P356
10.1046/J.1540-8167.2003.03177.X
P577
2003-11-01T00:00:00Z