Skipping of Exon 1 in the KCNQ1 gene causes Jervell and Lange-Nielsen syndrome. (Q50461891)

14 March 2018

title

Skipping of Exon 1 in the KCNQ1 gene causes Jervell and Lange-Nielsen syndrome. (English)

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8

Hugo A Katus

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14 March 2018

author name string

Joerg Zehelein

1

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Sven Kathoefer

2

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Markus Khalil

3

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Markus Alter

4

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Dierk Thomas

5

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Konrad Brockmeier

6

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Herbert E Ulmer

7

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Michael Koenen

9

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language of work or name

English

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publication date

19 September 2006

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Journal of Biological Chemistry

number of pages

7

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based on heuristic

inferred from page(s)

published in

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volume

281

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issue

46

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page(s)

35397-35403

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

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

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The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome

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KCNE1 mutations cause jervell and Lange-Nielsen syndrome

21 January 2018

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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

21 January 2018

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

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Mutations in a dominant-negative isoform correlate with phenotype in inherited cardiac arrhythmias

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

21 January 2018

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Dominant-negative I(Ks) suppression by KCNQ1-deltaF339 potassium channels linked to Romano-Ward syndrome

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

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A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome

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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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Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome.

21 January 2018

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

21 January 2018

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Identification and characterisation of a novel KCNQ1 mutation in a family with Romano-Ward syndrome

21 January 2018

1 reference

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21 January 2018

Identifiers

DOI

10.1074/JBC.M603433200

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14 March 2018

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14 March 2018