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Identification of a Thr-to-Met mutation in the skeletal muscle sodium channel gene in hyperkalemic periodic paralysis of a Japanese family
- Source :
- Annals of the New York Academy of Sciences. 707
- Publication Year :
- 1993
- Subjects :
- Adult
Male
Threonine
Hyperkalemia
Nav1.4
General Biochemistry, Genetics and Molecular Biology
Sodium Channels
Paralyses, Familial Periodic
chemistry.chemical_compound
Methionine
History and Philosophy of Science
Japan
Medicine
Humans
Point Mutation
Hyperkalemic periodic paralysis
Muscle, Skeletal
biology
business.industry
General Neuroscience
Point mutation
Sodium channel
Skeletal muscle
medicine.disease
Molecular biology
Pedigree
medicine.anatomical_structure
chemistry
Mutation (genetic algorithm)
biology.protein
Female
medicine.symptom
business
Subjects
Details
- ISSN :
- 00778923
- Volume :
- 707
- Database :
- OpenAIRE
- Journal :
- Annals of the New York Academy of Sciences
- Accession number :
- edsair.doi.dedup.....54dd3b530fcaed4102cfd05fd1004068