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Muscle Nerve 30:114-117(2004) · UniProtKB (1) |
| RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes. Robinson R.L., Brooks C., Brown S.L., Ellis F.R., Halsall P.J., Quinnell R.J., Shaw M.A., Hopkins P.M.
Hum. Mutat. 20:88-97(2002) · Mapped (6) |
| Genetic mapping of the beta 1- and gamma-subunits of the human skeletal muscle L-type voltage-dependent calcium channel on chromosome 17q and exclusion as candidate genes for malignant hyperthermia susceptibility. Iles D.E., Segers B., Sengers R.C.A., Monsieurs K., Heytens L., Halsall P.J., Hopkins P.M., Ellis F.R., Hall-Curran J.L., Stewart A.D. et al.
Hum. Mol. Genet. 2:863-868(1993) · UniProtKB (1) · Mapped (2) |
| Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies. Quane K.A., Keating K.E., Manning B.M., Healy J.M.S., Monsieurs K., Heffron J.J.A., Lehane M., Heytens L., Krivosic-Horber R., Adnet P. et al.
Hum. Mol. Genet. 3:471-476(1994) · UniProtKB (1) |
