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Temperature-sensitive mutations in the III–IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita

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Year: 1992
Type: article
Study design: Observational Study
Source: Cell
DOI: 10.1016/0092-8674(92)90151-2
Authors: Andrea I. McClatchey, Peter Van den Bergh, Margaret A. Pericak-Vance, Wendy Raskind, Christine Verellen, Diane McKenna-Yasek, Keshav Rao, Jonathan L. Haines, Thomas Bird, Robert H. Brown, James F. Gusella
Institutions: Harvard University, Massachusetts General Hospital, Cliniques Universitaires Saint-Luc, Duke University, Duke Medical Center, University of Washington, UConn Health, United States Department of Veterans Affairs, Veterans Health Administration
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
Awards: Genetic Studies in Neurological Disorders, GENETIC AND MOLECULAR STUDIES OF NEUROFIBROMATOSIS 1, Molecular Genetics of Inherited Neurological Diseases, G785371875, G793505578, G810187598
OpenAlex ID: W2155578952
FWCI: 9.289
Cites: 50
Cited by: 217
Related to: 10
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