|
Long QT Syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
Combination of cardiac conduction disease and long QT syndrome caused by mutation T1620K in the cardiac sodium channel.
|
18065446 |
2008 |
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmia.
|
26392562 |
2015 |
|
Hereditary bundle branch system defect
|
|
0.700 |
GeneticVariation
|
UNIPROT |
MOG1 rescues defective trafficking of Na(v)1.5 mutations in Brugada syndrome and sick sinus syndrome.
|
23420830 |
2013 |
|
Hereditary bundle branch system defect
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies.
|
19251209 |
2009 |
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
|
19716085 |
2009 |
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome.
|
18451998 |
2008 |
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A mutation in the sodium channel is responsible for the association of long QT syndrome and familial atrial fibrillation.
|
18929331 |
2008 |
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel and lethal de novo LQT-3 mutation in a newborn with distinct molecular pharmacology and therapeutic response.
|
18060054 |
2007 |
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.
|
16922724 |
2006 |
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
|
15840476 |
2005 |
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.
|
16414944 |
2005 |
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation.
|
12454206 |
2003 |
|
Hereditary bundle branch system defect
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation.
|
12569159 |
2003 |
|
Hereditary bundle branch system defect
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system.
|
12574143 |
2003 |
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel SCN5A mutation associated with long QT-3: altered inactivation kinetics and channel dysfunction.
|
12209021 |
2002 |
|
Hereditary bundle branch system defect
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block.
|
11804990 |
2002 |
|
Hereditary bundle branch system defect
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A sodium-channel mutation causes isolated cardiac conduction disease.
|
11234013 |
2001 |
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Novel arrhythmogenic mechanism revealed by a long-QT syndrome mutation in the cardiac Na(+) channel.
|
11304498 |
2001 |
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Inherited Brugada and long QT-3 syndrome mutations of a single residue of the cardiac sodium channel confer distinct channel and clinical phenotypes.
|
11410597 |
2001 |
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A molecular link between the sudden infant death syndrome and the long-QT syndrome.
|
10911008 |
2000 |
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel.
|
10377081 |
1999 |
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Sodium channel abnormalities are infrequent in patients with long QT syndrome: identification of two novel SCN5A mutations.
|
10508990 |
1999 |
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A de novo missense mutation of human cardiac Na+ channel exhibiting novel molecular mechanisms of long QT syndrome.
|
9506831 |
1998 |
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification of a new SCN5A mutation, D1840G, associated with the long QT syndrome. Mutations in brief no. 153. Online.
|
10627139 |
1998 |
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Novel LQT-3 mutation affects Na+ channel activity through interactions between alpha- and beta1-subunits.
|
9686753 |
1998 |