The substitution of Arg for Gly2433 in the human skeletal muscle ryanodine receptor is associated with malignant hyperthermia. [electronic resource]
Producer: 19950413Description: 2181-6 p. digitalISSN:- 0964-6906
- Arginine -- genetics
- Base Sequence
- Calcium Channels -- genetics
- Chromosomes, Human, Pair 19 -- genetics
- DNA, Complementary
- Female
- Genetic Linkage
- Glycine -- genetics
- Humans
- Male
- Malignant Hyperthermia -- diagnosis
- Molecular Sequence Data
- Muscle Proteins -- genetics
- Muscle, Skeletal -- metabolism
- Pedigree
- Point Mutation
- Polymorphism, Single-Stranded Conformational
- Ryanodine Receptor Calcium Release Channel
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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