1 | CACNA1S, MHS5
|
| Pharmacogenetics and pathophysiology of CACNA1S mutations in malignant hyperthermia
|
| Beam TA, Loudermilk EF, Kisor DF
|
| Physiol Genomics. Feb 1;49(2):81-87. doi: 10.1152/physiolgenomics.00126.2016. Epub 2016 Dec 23 2017
|
2 | CACNA1S, MHS5
|
| A report of fulminant malignant hyperthermia in a patient with a novel mutation of the CACNA1S gene
|
| Toppin PJ, Chandy TT, Ghanekar A, Kraeva N, Beattie WS, Riazi S
|
| Can J Anaesth. Jul;57(7):689-93. doi: 10.1007/s12630-010-9314-4. Epub 2010 Apr 30 2010
|
3 | MHS1, MHS5, CACNA1S, RYR1
|
| Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.
|
| Monnier N, Kozak-Ribbens G, Krivosic-Horber R, Nivoche Y, Qi D, Kraev N, Loke J, Sharma P, Tegazzin V, Figarella-Branger D, Romero N, Mezin P, Bendahan D, Payen JF, Depret T, Maclennan DH, Lunardi J.
|
| Hum Mutat 26(5):413-25. 2005
|
4 | MHS5, MHS6
|
| A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees.
|
| Robinson RL, Monnier N, Wolz W, Jung M, Reis A, Nuernberg G, Curran JL, Monsieurs K, Stieglitz P, Heytens L, Fricker R, van Broeckhoven C, Deufel T, Hopkins PM, Lunardi J, Mueller CR.
|
| Hum Mol Genet 6(6):953-61. 1997
|
5 | CACNA1S, MHS5
|
| Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle.
|
| Monnier N, Procaccio V, Stieglitz P, Lunardi J.
|
| Am J Hum Genet 60(6):1316-25. 1997
|