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Cosegregation of porcine malignant hyperthermia and a probable causal mutation in the skeletal muscle ryanodine receptor gene in backcross families

✍ Scribed by Otsu, Kinya; Khanna, Vijay K.; Archibald, Alan L.; MacLennan, David H.


Book ID
122368276
Publisher
Elsevier Science
Year
1991
Tongue
English
Weight
798 KB
Volume
11
Category
Article
ISSN
0888-7543

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In swine, a point mutation in the ryanodine receptor gene can account for all cases of malignant hyperthermia (MH). The frequency of a corresponding mutation in humans (C1840-T) and its relationship to the in vitro contracture profile is unknown. We screened 192 patients from 28 unrelated northern G