Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene. [electronic resource]
Producer: 20120709Description: 231-43 p. digitalISSN:- 1873-2364
- Adolescent
- Adult
- Biophysical Phenomena -- genetics
- Biophysics
- Cell Line, Transformed
- Child
- Chloride Channels -- genetics
- Electric Stimulation
- Electromyography
- Family Health
- Female
- Genetic Testing -- methods
- Humans
- Male
- Membrane Potentials -- genetics
- Middle Aged
- Mutagenesis, Site-Directed
- Mutation -- genetics
- Myotonia -- diagnosis
- Patch-Clamp Techniques
- Spain
- Transfection
- Young Adult
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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