|
Long QT Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.
|
25705178 |
2015 |
|
Long QT Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A molecular mechanism for adrenergic-induced long QT syndrome.
|
24184248 |
2014 |
|
Long QT Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Biophysical properties of mutant KCNQ1 S277L channels linked to hereditary long QT syndrome with phenotypic variability.
|
21241800 |
2011 |
|
Long QT Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome.
|
19808498 |
2009 |
|
Long QT Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The KCNQ1 (Kv7.1) COOH terminus, a multitiered scaffold for subunit assembly and protein interaction.
|
18165683 |
2008 |
|
Long QT Syndrome 1
|
|
0.800 |
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 1
|
|
0.800 |
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 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population.
|
12442276 |
2002 |
|
Long QT Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: robust multiplex analysis and pattern-based identification of allelic variants.
|
10220146 |
1999 |
|
Long QT Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
[Congenital long QT syndrome. The value of genetics in prognostic evaluation].
|
10367071 |
1999 |
|
Long QT Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.
|
9693036 |
1998 |
|
Long QT Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular genetics of the long QT syndrome: two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred.
|
9482580 |
1998 |
|
Long QT Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A recessive variant of the Romano-Ward long-QT syndrome?
|
9641694 |
1998 |
|
Long QT Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
New mutations in the KVLQT1 potassium channel that cause long-QT syndrome.
|
9570196 |
1998 |
|
Long QT Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The long QT syndrome: a novel missense mutation in the S6 region of the KVLQT1 gene.
|
9272155 |
1997 |
|
Long QT Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome.
|
9024139 |
1997 |
|
Long QT Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome.
|
9323054 |
1997 |
|
Long QT Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome.
|
9386136 |
1997 |
|
Long QT Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias.
|
9312006 |
1997 |
|
Long QT Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Evidence of a long QT founder gene with varying phenotypic expression in South African families.
|
8818942 |
1996 |
|
Long QT Syndrome 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Long QT Syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
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.
|
22456477 |
2012 |
|
Long QT Syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
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
|
|
0.710 |
CausalMutation
|
CLINVAR |
Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene.
|
17470695 |
2007 |
|
Long QT Syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
|
15840476 |
2005 |