Identification of Functionally Important Regions of the Muscular Chloride Channel ClC-1 by Analysis of Recessive and Dominant Myotonic Mutations
Author:
Publisher
Oxford University Press (OUP)
Subject
Genetics(clinical),Genetics,Molecular Biology,General Medicine
Reference32 articles.
1. Primary structure and functional expression of a developmentally regulated skeletal muscle chloride channel
2. Inactivation of muscle chloride channel by transposon insertion in myotonic mice
3. The Skeletal Muscle Chloride Channel in Dominant and Recessive Human Myotonia
4. Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita)
5. Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen).
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1. Characterization of ClC‐1 chloride channels in zebrafish: a new model to study myotonia;The Journal of Physiology;2024-07-19
2. ClC-1 Chloride Channel: Inputs on the Structure–Function Relationship of Myotonia Congenita-Causing Mutations;Biomedicines;2023-09-24
3. pXOOY: A dual-function vector for expression of membrane proteins in Saccharomyces cerevisiae and Xenopus laevis oocytes;PLOS ONE;2023-02-21
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