(Q44019182)

29 November 2017

title

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

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29 November 2017

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5

Wojciech Zareba

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29 November 2017

8

Jeffrey A Towbin

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29 November 2017

Zhiqing Wang

1

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29 November 2017

Hua Li

2

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29 November 2017

Arthur J Moss

3

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29 November 2017

Jennifer Robinson

4

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29 November 2017

Timothy Knilans

6

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29 November 2017

Neil E Bowles

7

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29 November 2017

publication date

1 April 2002

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Molecular Genetics and Metabolism

29 November 2017

published in

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29 November 2017

volume

75

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29 November 2017

issue

4

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29 November 2017

page(s)

308-316

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Molecular biology of arrhythmic syndromes

29 November 2017

cites work

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia

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7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900007-0

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900007-0

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900007-0

7 January 2021

Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900007-0

7 January 2021

Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900007-0

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900007-0

7 January 2021

IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome

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7 January 2021

Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen

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7 January 2021

KCNE1 mutations cause jervell and Lange-Nielsen syndrome

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7 January 2021

Molecular basis of the long-QT syndrome associated with deafness

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900007-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900007-0

7 January 2021

Novel KCNQ1 mutations associated with recessive and dominant congenital long QT syndromes: evidence for variable hearing phenotype associated with R518X.

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7 January 2021

A routine method for the establishment of permanent growing lymphoblastoid cell lines

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7 January 2021

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

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7 January 2021

Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography

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7 January 2021

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

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7 January 2021

Low penetrance in the long-QT syndrome: clinical impact

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7 January 2021

Nonsense-mediated mRNA decay in health and disease

1 reference

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7 January 2021

10.1016/S1096-7192(02)00007-0

Identifiers

DOI

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29 November 2017

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