A common single nucleotide polymorphism can exacerbate long-QT type 2 syndrome leading to sudden infant death.
about
Multiple arrhythmic syndromes in a newborn, owing to a novel mutation in SCN5ASudden unexplained death in infants and children: the role of undiagnosed inherited cardiac conditionsClinical and genetic determinants of torsade de pointes riskGenetics of sudden cardiac death syndromesCongenital Long QT Syndrome: An Update and Present Perspective in Saudi Arabia.Risk of syncope in family members who are genotype-negative for a family-associated long-QT syndrome mutationKCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1.Position of premature termination codons determines susceptibility of hERG mutations to nonsense-mediated mRNA decay in long QT syndromeMutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death.Nonsense-mediated mRNA decay caused by a frameshift mutation in a large kindred of type 2 long QT syndrome.Cardiac ion channelopathies and the sudden infant death syndromeTorsades de pointes following acute myocardial infarction: evidence for a deadly link with a common genetic variant.Long QT syndrome-associated mutations in intrauterine fetal death.Cardiac channelopathies and sudden infant death syndrome.Allelic Complexity in Long QT Syndrome: A Family-Case Study.Phenotype-driven molecular autopsy for sudden cardiac death.Defining the disconnect between in vitro models and human arrhythmogenic disease: context matters.Nonsense-Mediated mRNA Decay of hERG Mutations in Long QT Syndrome.LQTS in Northern BC: homozygosity for KCNQ1 V205M presents with a more severe cardiac phenotype but with minimal impact on auditory function.Sudden infant death syndrome and inherited cardiac conditions.Mutation analysis for the detection of long QT-syndrome (LQTS) associated SNPs.
P2860
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P2860
A common single nucleotide polymorphism can exacerbate long-QT type 2 syndrome leading to sudden infant death.
description
2010 nî lūn-bûn
@nan
2010 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
A common single nucleotide pol ...... eading to sudden infant death.
@ast
A common single nucleotide pol ...... eading to sudden infant death.
@en
type
label
A common single nucleotide pol ...... eading to sudden infant death.
@ast
A common single nucleotide pol ...... eading to sudden infant death.
@en
prefLabel
A common single nucleotide pol ...... eading to sudden infant death.
@ast
A common single nucleotide pol ...... eading to sudden infant death.
@en
P2093
P2860
P50
P1476
A common single nucleotide pol ...... leading to sudden infant death
@en
P2093
Barry Love
Elena Burashnikov
Gabriel Caceres
Jonathan M Cordeiro
Moshe Gunsburg
P2860
P304
P356
10.1161/CIRCGENETICS.109.898569
P577
2010-02-24T00:00:00Z