(Q33150558)

English

Novel compound heterozygous mutations in the KCNQ1 gene associated with autosomal recessive long QT syndrome (Jervell and Lange-Nielsen syndrome).

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scholarly article

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Europe PubMed Central

PubMed publication ID

22 July 2017

Novel compound heterozygous mutations in the KCNQ1 gene associated with autosomal recessive long QT syndrome (Jervell and Lange-Nielsen syndrome) (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6932064&resulttype=core&format=json

13 May 2020

long QT syndrome

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

Wojciech Zareba

3

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Wojciech Zareba

2 references

Europe PubMed Central

PubMed publication ID

22 July 2017

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6932064&resulttype=core&format=json

13 May 2020

2

object named as

Arthur J Moss

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6932064&resulttype=core&format=json

13 May 2020

author name string

Li Ning

1

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Europe PubMed Central

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13 May 2020

Jennifer Robinson

4

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13 May 2020

Spencer Rosero

5

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13 May 2020

Dan Ryan

6

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13 May 2020

Ming Qi

7

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13 May 2020

publication date

1 July 2003

1 reference

Europe PubMed Central

PubMed publication ID

22 July 2017

Annals of Noninvasive Electrocardiology

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6932064&resulttype=core&format=json

13 May 2020

8

1 reference

Europe PubMed Central

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13 May 2020

3

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13 May 2020

246-250

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Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6932064&resulttype=core&format=json

13 May 2020

Diagnostic criteria for the long QT syndrome. An update

1 reference

https://api.crossref.org/works/10.1046%2FJ.1542-474X.2003.08313.X

21 January 2018

Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval and sudden death

1 reference

https://api.crossref.org/works/10.1046%2FJ.1542-474X.2003.08313.X

21 January 2018

Molecular and cellular mechanisms of cardiac arrhythmias

1 reference

https://api.crossref.org/works/10.1046%2FJ.1542-474X.2003.08313.X

21 January 2018

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2

1 reference

https://api.crossref.org/works/10.1046%2FJ.1542-474X.2003.08313.X

21 January 2018

Jervell and Lange-Nielsen syndrome: neurologic and cardiologic evaluation

1 reference

https://api.crossref.org/works/10.1046%2FJ.1542-474X.2003.08313.X

21 January 2018

A recessive C-terminal Jervell and Lange-Nielsen mutation of the KCNQ1 channel impairs subunit assembly

1 reference

https://api.crossref.org/works/10.1046%2FJ.1542-474X.2003.08313.X

21 January 2018

Jervell and Lange-Nielsen syndrome: a Norwegian perspective

1 reference

https://api.crossref.org/works/10.1046%2FJ.1542-474X.2003.08313.X

21 January 2018

Homozygous deletion in KVLQT1 associated with Jervell and Lange-Nielsen syndrome.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1542-474X.2003.08313.X

21 January 2018

Coassembly of K(V)LQT1 and minK (IsK) proteins to form cardiac I(Ks) potassium channel

1 reference

https://api.crossref.org/works/10.1046%2FJ.1542-474X.2003.08313.X

21 January 2018

K(V)LQT1 and lsK (minK) proteins associate to form the I(Ks) cardiac potassium current

1 reference

https://api.crossref.org/works/10.1046%2FJ.1542-474X.2003.08313.X

21 January 2018

Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome

1 reference

https://api.crossref.org/works/10.1046%2FJ.1542-474X.2003.08313.X

21 January 2018

Autosomal recessive long-QT syndrome (Jervell Lange-Nielsen syndrome) is genetically heterogeneous

1 reference

https://api.crossref.org/works/10.1046%2FJ.1542-474X.2003.08313.X

21 January 2018

Low penetrance in the long-QT syndrome: clinical impact

1 reference

https://api.crossref.org/works/10.1046%2FJ.1542-474X.2003.08313.X

21 January 2018

Bi-directional dideoxy fingerprinting (Bi-ddF): a rapid method for quantitative detection of mutations in genomic regions of 300-600 bp

1 reference

https://api.crossref.org/works/10.1046%2FJ.1542-474X.2003.08313.X

21 January 2018

The long QT syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/14510661

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genotype and severity of long QT syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/14510661

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A NEW FAMILIAL CARDIAC SYNDROME IN CHILDREN

1 reference

https://pubmed.ncbi.nlm.nih.gov/14510661

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

RARE CARDIAC ARRYTHMIAS OF THE PEDIATRIC AGE. II. SYNCOPAL ATTACKS DUE TO PAROXYSMAL VENTRICULAR FIBRILLATION. (PRESENTATION OF 1ST CASE IN ITALIAN PEDIATRIC LITERATURE)

1 reference

https://pubmed.ncbi.nlm.nih.gov/14510661

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1046/J.1542-474X.2003.08313.X

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6932064&resulttype=core&format=json

13 May 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6932064&resulttype=core&format=json

13 May 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6932064&resulttype=core&format=json

13 May 2020

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