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Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita

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Year: 1992
Type: article
Study design: Observational Study
Source: Neuron
DOI: 10.1016/0896-6273(92)90203-p
Authors: Louis J. Ptáček, Alfred L. George, Robert L. Barchi, Robert C. Griggs, Jack E. Riggs, Margaret Robertson, Mark F. Leppert
Institutions: University of Utah, University of Pennsylvania, Howard Hughes Medical Institute, University of Rochester Medicine, University of Rochester, West Virginia University
Language: English

Topic: Ion channel regulation and function
Subfield: Molecular Biology
Field: Biochemistry, Genetics and Molecular Biology
Domain: Life Sciences
SDG: Good health and well-being

Open Access status: closed

Funders: National Institutes of Health, National Institute of Neurological Disorders and Stroke, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Eunice Kennedy Shriver National Institute of Child Health and Human Development
Awards: G2987109519, G3822206357, G3969515050, GENETIC LINKAGE AND ION CHANNELS IN PERIODIC PARALYSES, PURIFIED SODIUM CHANNELS FROM SARCOLEMMA, MUSCLE SODIUM CHANNELS IN PERIOD PARALYSIS
OpenAlex ID: W2143319028
FWCI: 7.201
Cites: 36
Cited by: 245
Related to: 10
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