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Volumn 11, Issue 6-7, 2001, Pages 530-537
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Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families
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Author keywords
Functional analysis of disease causing mutation; Malignant hyperthermia; North American family; Novel ryanodine receptor mutation; South American family
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Indexed keywords
ANESTHETIC AGENT;
CAFFEINE;
HALOTHANE;
MUTANT PROTEIN;
RYANODINE RECEPTOR;
SUXAMETHONIUM;
ADULT;
ANESTHESIA;
ARTICLE;
CLINICAL ARTICLE;
GENE LOCUS;
GENE MUTATION;
GENETIC ANALYSIS;
GENOTYPE;
HAPLOTYPE;
HUMAN;
MALIGNANT HYPERTHERMIA;
MISSENSE MUTATION;
PATHOGENESIS;
PHENOTYPE;
POLYMERASE CHAIN REACTION;
PRIORITY JOURNAL;
AMINO ACID SUBSTITUTION;
ARGENTINA;
FAMILY HEALTH;
FEMALE;
GENOTYPE;
HUMANS;
LINKAGE (GENETICS);
MALE;
MALIGNANT HYPERTHERMIA;
MUTATION, MISSENSE;
PEDIGREE;
PHENOTYPE;
RADIOLIGAND ASSAY;
RYANODINE;
RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL;
TRITIUM;
UNITED STATES;
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EID: 0034892948
PISSN: 09608966
EISSN: None
Source Type: Journal
DOI: 10.1016/S0960-8966(01)00202-4 Document Type: Article |
Times cited : (43)
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References (44)
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