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Journal Abstract Search

122 related items for PubMed ID: 1510267

  • 21. Identification of genetic mutations in Australian malignant hyperthermia families using sequencing of RYR1 hotspots.
    Gillies RL, Bjorksten AR, Davis M, Du Sart D.
    Anaesth Intensive Care; 2008 May; 36(3):391-403. PubMed ID: 18564801
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  • 22. Mutation screening of the RYR1 gene in malignant hyperthermia: detection of a novel Tyr to Ser mutation in a pedigree with associated central cores.
    Quane KA, Keating KE, Healy JM, Manning BM, Krivosic-Horber R, Krivosic I, Monnier N, Lunardi J, McCarthy TV.
    Genomics; 1994 Sep 01; 23(1):236-9. PubMed ID: 7829078
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  • 23. A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree.
    Brown RL, Pollock AN, Couchman KG, Hodges M, Hutchinson DO, Waaka R, Lynch P, McCarthy TV, Stowell KM.
    Hum Mol Genet; 2000 Jun 12; 9(10):1515-24. PubMed ID: 10888602
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  • 24. Detection of a novel mutation in the ryanodine receptor gene in an Irish malignant hyperthermia pedigree: correlation of the IVCT response with the affected and unaffected haplotypes.
    Keating KE, Giblin L, Lynch PJ, Quane KA, Lehane M, Heffron JJ, McCarthy TV.
    J Med Genet; 1997 Apr 12; 34(4):291-6. PubMed ID: 9138151
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  • 25. DNA sequence of the skeletal muscle calcium release channel cDNA and verification of the Arg615----Cys615 mutation, associated with porcine malignant hyperthermia, in Norwegian landrace pigs.
    Harbitz I, Kristensen T, Bosnes M, Kran S, Davies W.
    Anim Genet; 1992 Apr 12; 23(5):395-402. PubMed ID: 1329581
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  • 27. No association between the neuroleptic malignant syndrome and mutations in the RYR1 gene associated malignant hyperthermia.
    Miyatake R, Iwahashi K, Matsushita M, Nakamura K, Suwaki H.
    J Neurol Sci; 1996 Nov 12; 143(1-2):161-5. PubMed ID: 8981316
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  • 32. The role of the skeletal muscle ryanodine receptor gene in malignant hyperthermia.
    MacLennan DH, Otsu K, Fujii J, Zorzato F, Phillips MS, O'Brien PJ, Archibald AL, Britt BA, Gillard EF, Worton RG.
    Symp Soc Exp Biol; 1992 Nov 12; 46():189-201. PubMed ID: 1341035
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  • 35. Exclusion of defects in the skeletal muscle specific regions of the DHPR alpha 1 subunit as frequent causes of malignant hyperthermia.
    O'Brien RO, Taske NL, Hansbro PM, Matthaei KI, Hogan SP, Denborough MA, Foster PS.
    J Med Genet; 1995 Nov 12; 32(11):913-4. PubMed ID: 8592342
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  • 38. Co-segregation of the malignant hyperthermia and the Arg615-Cys615 mutation in the skeletal muscle calcium release channel protein in five European Landrace and Pietrain pig breeds.
    Vögeli P, Bolt R, Fries R, Stranzinger G.
    Anim Genet; 1994 Jun 12; 25 Suppl 1():59-66. PubMed ID: 7943985
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  • 39. Haplotype analysis of the BYR1 gene in malignant hyperthermia and central core disease.
    Quane KA, Keating KE, Healy JM, Heffron JJ, Lehane M, Krivosic-Horber R, Heytens L, McCarthy TV.
    Biochem Soc Trans; 1995 May 12; 23(2):372S. PubMed ID: 7672403
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