(Q48932812)

16 February 2018

title

ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence (English)

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16 February 2018

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5

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author name string

Kubisch C

1

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16 February 2018

Schmidt-Rose T

2

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Fontaine B

3

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Bretag AH

4

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publication date

1 October 1998

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16 February 2018

published in

Human Molecular Genetics

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16 February 2018

volume

7

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issue

11

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16 February 2018

page(s)

1753-1760

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Primary structure and functional expression of a developmentally regulated skeletal muscle chloride channel

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.11.1753

The skeletal muscle chloride channel in dominant and recessive human myotonia

21 January 2018

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Primary structure of Torpedo marmorata chloride channel isolated by expression cloning in Xenopus oocytes

21 January 2018

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Homodimeric architecture of a ClC-type chloride ion channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.11.1753

Two physically distinct pores in the dimeric ClC-0 chloride channel.

21 January 2018

1 reference

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Subunit stoichiometry of human muscle chloride channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.11.1753

Identification of functionally important regions of the muscular chloride channel CIC-1 by analysis of recessive and dominant myotonic mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.11.1753

Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.11.1753

Drug-induced myotonia in human intercostal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.11.1753

Myotonia levior is a chloride channel disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.11.1753

Molecular basis for decreased muscle chloride conductance in the myotonic goat

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.11.1753

Gating of the voltage-dependent chloride channel CIC-0 by the permeant anion

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.11.1753

Nonequilibrium gating and voltage dependence of the ClC-0 Cl- channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.11.1753

Concentration and pH dependence of skeletal muscle chloride channel ClC-1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.11.1753

Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.11.1753

A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.11.1753

Reconstitution of Functional Voltage-gated Chloride Channels from Complementary Fragments of CLC-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.11.1753

Independent gating of single pores in CLC-0 chloride channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.11.1753

Low single channel conductance of the major skeletal muscle chloride channel, ClC-1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.11.1753

Evidence for genetic homogeneity in autosomal recessive generalised myotonia (Becker).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.11.1753

Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia.

21 January 2018

1 reference

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A workbench for multiple alignment construction and analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.11.1753

Heteromultimeric CLC chloride channels with novel properties

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.11.1753

Molecular dissection of gating in the ClC-2 chloride channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.11.1753

Transmembrane topology of a CLC chloride channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.11.1753

Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.11.1753

Proof of a non-functional muscle chloride channel in recessive myotonia congenita (Becker) by detection of a 4 base pair deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.11.1753

21 January 2018

Identifiers

DOI

10.1093/HMG/7.11.1753

1 reference

16 February 2018

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16 February 2018