Characterization of two new dominant ClC-1 channel mutations associated with myotonia.

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Dominantly inherited myotonia congenita resulting from a mutation that increases open probability of the muscle chloride channel CLC-1 Electrophysiological characteristics of six mutations in hClC-1 of Korean patients with myotonia congenita.

P2860

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Characterization of two new dominant ClC-1 channel mutations associated with myotonia.

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2003 nî lūn-bûn

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2003年の論文

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2003年学术文章

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2003年学术文章

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2003年学术文章

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Characterization of two new dominant ClC-1 channel mutations associated with myotonia.

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Characterization of two new dominant ClC-1 channel mutations associated with myotonia.

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Item

label

Characterization of two new dominant ClC-1 channel mutations associated with myotonia.

@en

Characterization of two new dominant ClC-1 channel mutations associated with myotonia.

@nl

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Characterization of two new dominant ClC-1 channel mutations associated with myotonia.

@en

Characterization of two new dominant ClC-1 channel mutations associated with myotonia.

@nl

P1476

Characterization of two new dominant ClC-1 channel mutations associated with myotonia.

@en

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Dan A Klaerke

http://www.w3.org/2001/XMLSchema#string

Eskild Colding-Jørgensen

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John Vissing

http://www.w3.org/2001/XMLSchema#string

Marianne Schwartz

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Morten Dunø

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Morten Grunnet

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P2860

The Structure of the Potassium Channel: Molecular Basis of K+ Conduction and Selectivity

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

X-ray structure of a ClC chloride channel at 3.0 A reveals the molecular basis of anion selectivity

Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel

Drastic reduction of the slow gate of human muscle chloride channel (ClC-1) by mutation C277S

Chloride conductance in normal and myotonic muscle fibres and the action of monocarboxylic aromatic acids

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

Functional messenger RNAs are produced by SP6 in vitro transcription of cloned cDNAs

Apamin interacts with all subtypes of cloned small-conductance Ca2+-activated K+ channels.

Molecular structure and physiological function of chloride channels.

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722-732

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scholarly article

P356

10.1002/MUS.10501

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P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

Søren-Peter Olesen

Thomas Jespersen

P577

2003-12-01T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

14639587

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Characterization of two new dominant ClC-1 channel mutations associated with myotonia.

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P2860

P2860

Characterization of two new dominant ClC-1 channel mutations associated with myotonia.

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P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698