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4. Ryanodine receptor mutations in malignant hyperthermia and central core disease. McCarthy TV; Quane KA; Lynch PJ Hum Mutat; 2000; 15(5):410-7. PubMed ID: 10790202 [TBL] [Abstract][Full Text] [Related]
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6. Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype. Sambuughin N; McWilliams S; de Bantel A; Sivakumar K; Nelson TE Am J Hum Genet; 2001 Jul; 69(1):204-8. PubMed ID: 11389482 [TBL] [Abstract][Full Text] [Related]
7. A case of discordance between genotype and phenotype in a malignant hyperthermia family. Fortunato G; Carsana A; Tinto N; Brancadoro V; Canfora G; Salvatore F Eur J Hum Genet; 1999; 7(4):415-20. PubMed ID: 10352931 [TBL] [Abstract][Full Text] [Related]
8. Functional characterization of the RYR1 mutation p.Arg4737Trp associated with susceptibility to malignant hyperthermia. Johannsen S; Treves S; Müller CR; Mögele S; Schneiderbanger D; Roewer N; Schuster F Neuromuscul Disord; 2016 Jan; 26(1):21-5. PubMed ID: 26631338 [TBL] [Abstract][Full Text] [Related]
9. Recent advances in the diagnosis of malignant hyperthermia susceptibility: how confident can we be of genetic testing? Robinson RL; Anetseder MJ; Brancadoro V; van Broekhoven C; Carsana A; Censier K; Fortunato G; Girard T; Heytens L; Hopkins PM; Jurkat-Rott K; Klinger W; Kozak-Ribbens G; Krivosic R; Monnier N; Nivoche Y; Olthoff D; Rueffert H; Sorrentino V; Tegazzin V; Mueller CR Eur J Hum Genet; 2003 Apr; 11(4):342-8. PubMed ID: 12700608 [TBL] [Abstract][Full Text] [Related]
16. [Homozygous and compound heterozygous RYR1 mutations. New findings on prevalence and penetrance of malignant hyperthermia]. Wolak S; Rücker B; Kohlschmidt N; Doetsch S; Bartsch O; Zechner U; Tzanova I Anaesthesist; 2014 Sep; 63(8-9):643-50. PubMed ID: 25047158 [TBL] [Abstract][Full Text] [Related]
17. Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the north american population. Sambuughin N; Holley H; Muldoon S; Brandom BW; de Bantel AM; Tobin JR; Nelson TE; Goldfarb LG Anesthesiology; 2005 Mar; 102(3):515-21. PubMed ID: 15731587 [TBL] [Abstract][Full Text] [Related]
18. Evidence for a spontaneous C1840-T mutation in the RYR1 gene after DNA fingerprinting in a malignant hyperthermia susceptible family. Steinfath M; Seranski P; Singh S; Fiege M; Wappler F; Schulte Am Esch J; Scholz J Naunyn Schmiedebergs Arch Pharmacol; 2002 Oct; 366(4):372-5. PubMed ID: 12237752 [TBL] [Abstract][Full Text] [Related]
19. Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia. Galli L; Orrico A; Lorenzini S; Censini S; Falciani M; Covacci A; Tegazzin V; Sorrentino V Hum Mutat; 2006 Aug; 27(8):830. PubMed ID: 16835904 [TBL] [Abstract][Full Text] [Related]
20. Allele-specific differences in ryanodine receptor 1 mRNA expression levels may contribute to phenotypic variability in malignant hyperthermia. Grievink H; Stowell KM Orphanet J Rare Dis; 2010 May; 5():10. PubMed ID: 20482855 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]