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Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia.
Manning BM, Quane KA, Lynch PJ, Urwyler A, Tegazzin V, Krivosic-Horber R, Censier K, Comi G, Adnet P, Wolz W, Lunardi J, Muller CR, McCarthy TV. Manning BM, et al. Among authors: mccarthy tv. Hum Mutat. 1998;11(1):45-50. doi: 10.1002/(SICI)1098-1004(1998)11:1<45::AID-HUMU7>3.0.CO;2-K. Hum Mutat. 1998. PMID: 9450902 No abstract available.
Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation.
Manning BM, Quane KA, Ording H, Urwyler A, Tegazzin V, Lehane M, O'Halloran J, Hartung E, Giblin LM, Lynch PJ, Vaughan P, Censier K, Bendixen D, Comi G, Heytens L, Monsieurs K, Fagerlund T, Wolz W, Heffron JJ, Muller CR, McCarthy TV. Manning BM, et al. Among authors: mccarthy tv. Am J Hum Genet. 1998 Mar;62(3):599-609. doi: 10.1086/301748. Am J Hum Genet. 1998. PMID: 9497245 Free PMC article.
1,047 results