|
| Entrez Id: |
3784 |
| Gene Symbol: |
KCNQ1 |
KCNQ1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Our data show a wide KVLQT1 allelic heterogeneity among 20 families in which KVLQT1 causes RWS.
|
9386136 |
1997 |
|
| Entrez Id: |
3784 |
| Gene Symbol: |
KCNQ1 |
KCNQ1
|
1.000 |
GeneticVariation
|
disease |
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 |
|
| Entrez Id: |
3784 |
| Gene Symbol: |
KCNQ1 |
KCNQ1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population.
|
12442276 |
2002 |
|
| Entrez Id: |
3784 |
| Gene Symbol: |
KCNQ1 |
KCNQ1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
|
15840476 |
2005 |
|
| Entrez Id: |
3784 |
| Gene Symbol: |
KCNQ1 |
KCNQ1
|
1.000 |
GeneticVariation
|
disease |
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 |
|
| Entrez Id: |
3784 |
| Gene Symbol: |
KCNQ1 |
KCNQ1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Identification of a novel KCNQ1 mutation associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long QT syndrome in a Chinese family.
|
18400097 |
2008 |
|
| Entrez Id: |
3784 |
| Gene Symbol: |
KCNQ1 |
KCNQ1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A590T mutation in KCNQ1 C-terminal helix D decreases IKs channel trafficking and function but not Yotiao interaction.
|
24713462 |
2014 |
|
| Entrez Id: |
3784 |
| Gene Symbol: |
KCNQ1 |
KCNQ1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Low penetrance in the long-QT syndrome: clinical impact.
|
9927399 |
1999 |
|
| Entrez Id: |
3784 |
| Gene Symbol: |
KCNQ1 |
KCNQ1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The KCNQ1 (Kv7.1) COOH terminus, a multitiered scaffold for subunit assembly and protein interaction.
|
18165683 |
2008 |
|
| Entrez Id: |
3784 |
| Gene Symbol: |
KCNQ1 |
KCNQ1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: robust multiplex analysis and pattern-based identification of allelic variants.
|
10220146 |
1999 |
|
| Entrez Id: |
3784 |
| Gene Symbol: |
KCNQ1 |
KCNQ1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Evidence of a long QT founder gene with varying phenotypic expression in South African families.
|
8818942 |
1996 |
|
| Entrez Id: |
3784 |
| Gene Symbol: |
KCNQ1 |
KCNQ1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
KVLQT1 mutations in three families with familial or sporadic long QT syndrome.
|
8872472 |
1996 |
|
| Entrez Id: |
3784 |
| Gene Symbol: |
KCNQ1 |
KCNQ1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Biophysical properties of mutant KCNQ1 S277L channels linked to hereditary long QT syndrome with phenotypic variability.
|
21241800 |
2011 |
|
| Entrez Id: |
3784 |
| Gene Symbol: |
KCNQ1 |
KCNQ1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome.
|
19808498 |
2009 |
|
| Entrez Id: |
3784 |
| Gene Symbol: |
KCNQ1 |
KCNQ1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Long QT syndrome-associated mutations in the S4-S5 linker of KvLQT1 potassium channels modify gating and interaction with minK subunits.
|
10409658 |
1999 |
|
| Entrez Id: |
3784 |
| Gene Symbol: |
KCNQ1 |
KCNQ1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome.
|
10024302 |
1999 |