Increasing the number of diagnostic mutations in malignant hyperthermia

Human Mutation

Volumn 30, Issue 4, 2009, Pages 590-598

  Levano, Soledad ^a,b   Vukcevic, Mirko ^a   Singer, Martine ^a   Matter, Anja ^a   Treves, Susan ^a   Urwyler, Albert ^a   Girard, Thierry ^a  

^a UNIVERSITY HOSPITAL BASEL   (Switzerland)

^b UNIVERSITY OF BASEL   (Switzerland)

Author keywords

Abnormal calcium homeostasis; In vitro contracture testing; IVCT; Malignant hyperthermia; MH; MH diagnosis; Mutation segregation; Ryanodine receptor type 1; RYR1

Indexed keywords

1,4 DIHYDROPYRIDINE RECEPTOR; RYANODINE RECEPTOR 1;

AMINO ACID SUBSTITUTION; ARTICLE; CALCIUM HOMEOSTASIS; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC VALUE; EPSTEIN BARR VIRUS; GENE DUPLICATION; GENE MUTATION; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN TISSUE; LYMPHOBLASTOID CELL; MALIGNANT HYPERTHERMIA; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPIC VARIATION; POINT MUTATION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SPLICING DEFECT;

CAFFEINE; CALCIUM; CELL LINE, TRANSFORMED; CRESOLS; DNA MUTATIONAL ANALYSIS; DOSE-RESPONSE RELATIONSHIP, DRUG; FAMILY HEALTH; GENE FREQUENCY; GENETIC SCREENING; GENOTYPE; HUMANS; LYMPHOCYTES; MALIGNANT HYPERTHERMIA; MUTATION; PHENOTYPE; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL;

HUMAN HERPESVIRUS 4;

EID: 63749119748     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20878     Document Type: Article

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