|
Long Qt Syndrome 2
|
|
0.800 |
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 2
|
|
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 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mechanisms of pharmacological rescue of trafficking-defective hERG mutant channels in human long QT syndrome.
|
16361248 |
2006 |
|
Long Qt Syndrome 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical, genetic, and biophysical characterization of a homozygous HERG mutation causing severe neonatal long QT syndrome.
|
12621127 |
2003 |
|
Long Qt Syndrome 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population.
|
12442276 |
2002 |
|
Long Qt Syndrome 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Characterization of a novel missense mutation E637K in the pore-S6 loop of HERG in a patient with long QT syndrome.
|
12062363 |
2002 |
|
Long Qt Syndrome 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Bradycardia-induced long QT syndrome caused by a de novo missense mutation in the S2-S3 inner loop of HERG.
|
11170080 |
2001 |
|
Long Qt Syndrome 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
|
10973849 |
2000 |
|
Long Qt Syndrome 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The dominant negative LQT2 mutation A561V reduces wild-type HERG expression.
|
10753933 |
2000 |
|
Long Qt Syndrome 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Long QT syndrome with a high mortality rate caused by a novel G572R missense mutation in KCNH2.
|
10735633 |
2000 |
|
Long Qt Syndrome 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Long QT syndrome-associated mutations in the Per-Arnt-Sim (PAS) domain of HERG potassium channels accelerate channel deactivation.
|
10187793 |
1999 |
|
Long Qt Syndrome 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Characterization of a novel missense mutation in the pore of HERG in a patient with long QT syndrome.
|
10517660 |
1999 |
|
Long Qt Syndrome 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.
|
10220144 |
1999 |
|
Long Qt Syndrome 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome.
|
9544837 |
1998 |
|
Long Qt Syndrome 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.
|
9693036 |
1998 |
|
Long Qt Syndrome 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel missense mutation (G601S) of HERG in a Japanese long QT syndrome family.
|
9452080 |
1998 |
|
Long Qt Syndrome 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome.
|
9024139 |
1997 |
|
Long Qt Syndrome 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Missense mutation in the pore region of HERG causes familial long QT syndrome.
|
8635257 |
1996 |
|
Long Qt Syndrome 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel missense mutation in the cyclic nucleotide-binding domain of HERG causes long QT syndrome.
|
8914737 |
1996 |
|
Long Qt Syndrome 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome.
|
7889573 |
1995 |
|
Long Qt Syndrome 2
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|