Article
Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia.
Science (New York, N.Y.) - 26 Jul 1991
Fujii J, Otsu K, Zorzato F, de Leon S, Khanna V K, Weiler J E, O'Brien P J, MacLennan D H
Abstract excerpt
Malignant hyperthermia (MH) causes neurological, liver, and kidney damage and death in humans and major economic losses in the swine industry. A single point mutation in the porcine gene for the skeletal muscle ryanodine receptor (ryr1) was found to be correlated with MH in five major breeds of lean, heavily muscled swine. Haplotyping suggests that the mutation in all five breeds has a common origin. Assuming...
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