(Q73047600)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10508990%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

title

Sodium channel abnormalities are infrequent in patients with long QT syndrome: identification of two novel SCN5A mutations (English)

1 reference

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31 October 2019

1 reference

8

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31 October 2019

author name string

D Wattanasirichaigoon

1

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31 October 2019

M R Vesely

2

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31 October 2019

P Duggal

3

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31 October 2019

J C Levine

4

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31 October 2019

E D Blume

5

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31 October 2019

G S Wolff

6

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31 October 2019

S B Edwards

7

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31 October 2019

publication date

1 October 1999

1 reference

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American Journal of Medical Genetics Part A

31 October 2019

published in

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31 October 2019

volume

86

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31 October 2019

issue

5

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31 October 2019

page(s)

470-476

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Novel LQT-3 mutation affects Na+ channel activity through interactions between alpha- and beta1-subunits

31 October 2019

cites work

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Genetic basis and molecular mechanism for idiopathic ventricular fibrillation

21 January 2018

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A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome

21 January 2018

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Evidence of a long QT founder gene with varying phenotypic expression in South African families

21 January 2018

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KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome

21 January 2018

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Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome

21 January 2018

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Multiple mechanisms of Na+ channel--linked long-QT syndrome.

21 January 2018

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Genomic organization and mutational analysis of HERG, a gene responsible for familial long QT syndrome

21 January 2018

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Phenotypic characterization of a novel long-QT syndrome mutation (R1623Q) in the cardiac sodium channel.

21 January 2018

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Age-gender influence on the rate-corrected QT interval and the QT-heart rate relation in families with genotypically characterized long QT syndrome.

21 January 2018

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New mutations in the KVLQT1 potassium channel that cause long-QT syndrome

21 January 2018

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A de novo missense mutation of human cardiac Na+ channel exhibiting novel molecular mechanisms of long QT syndrome.

21 January 2018

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The missing second: what is the correct unit for the Bazett corrected QT interval?

21 January 2018

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ECG T-Wave Patterns in Genetically Distinct Forms of the Hereditary Long QT Syndrome

21 January 2018

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A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome

21 January 2018

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Multiple mechanisms in the long-QT syndrome. Current knowledge, gaps, and future directions. The SADS Foundation Task Force on LQTS.

21 January 2018

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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

21 January 2018

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Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome

21 January 2018

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KCNE1 mutations cause jervell and Lange-Nielsen syndrome

21 January 2018

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Diagnostic criteria for the long QT syndrome. An update

21 January 2018

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Long QT syndrome patients with mutations of the SCN5A and HERG genes have differential responses to Na+ channel blockade and to increases in heart rate. Implications for gene-specific therapy.

21 January 2018

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RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

21 January 2018

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Mutations in the hminK gene cause long QT syndrome and suppress IKs function

21 January 2018

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Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome

21 January 2018

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The spectrum of symptoms and QT intervals in carriers of the gene for the long-QT syndrome

21 January 2018

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SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome

21 January 2018

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Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia.

21 January 2018

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Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias

21 January 2018

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Characterization of human cardiac Na+ channel mutations in the congenital long QT syndrome

21 January 2018

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Genomic organization of the human SCN5A gene encoding the cardiac sodium channel

21 January 2018

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Pharmacological targeting of long QT mutant sodium channels

21 January 2018

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Molecular basis of charge movement in voltage-gated sodium channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991029%2986%3A5%3C470%3A%3AAID-AJMG13%3E3.0.CO%3B2-Y

10.1002/(SICI)1096-8628(19991029)86:5<470::AID-AJMG13>3.0.CO;2-Y

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10508990%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

1 reference