Exon 17 skipping inCLCN1 leads to recessive myotonia congenita-Reference-Cited by-同舟云学术

Exon 17 skipping inCLCN1 leads to recessive myotonia congenita

Published:2004 Issue:5 Volume:29 Page:670-676
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle Nerve

Author:

Chen Lie,Schaerer Martin,Lu Zen H.,Lang Doris,Joncourt Franziska,Weis Joachim,Fritschi Juerg,Kappeler Lilianne,Gallati Sabina,Sigel Erwin,Burgunder Jean-Marc

Publisher

Wiley

Subject

Physiology (medical),Cellular and Molecular Neuroscience,Neurology (clinical),Physiology

Reference37 articles.

1. Phenotype and genotype in the myotonic disorders

2. MYOTONIA IN THE GOAT

3. Membrane ionic conductances in normal and denervated skeletal muscle of the rat during development

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

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