Evidence for a spontaneous C1840-T mutation in the RYR1 gene after DNA fingerprinting in a malignant hyperthermia susceptible family

Naunyn-Schmiedeberg's Archives of Pharmacology

Volumn 366, Issue 4, 2002, Pages 372-375

  Steinfath, Markus ^a   Seranski, Peter ^a   Singh, Surjit ^b   Fiege, Marko ^b   Wappler, Frank ^b   Schulte Am Esch, Jochen ^b   Scholz, Jens ^a  

^a UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^b UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

Malignant hyperthermia susceptibility; Mutation screening; Nucleotide exchange; Ryanodine receptor

Indexed keywords

ALFENTANIL; CAFFEINE; HALOTHANE; MIDAZOLAM; NITROUS OXIDE; OXYGEN; PROPOFOL; RYANODINE RECEPTOR;

ADOLESCENT; ADULT; AGED; ARTICLE; CALCIUM CELL LEVEL; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE PREDISPOSITION; DNA FINGERPRINTING; FEMALE; GENE; GENE MUTATION; HUMAN; MALE; MALIGNANT HYPERTHERMIA; PEDIGREE; PHARMACOGENETICS; PHENOTYPE; RYR1 GENE; SCHOOL CHILD; SKELETAL MUSCLE;

ADOLESCENT; ADULT; AGED; CHILD; CYTOSINE; DNA FINGERPRINTING; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MALIGNANT HYPERTHERMIA; MIDDLE AGED; PEDIGREE; POINT MUTATION; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL; THYMINE;

EID: 0036380583     PISSN: 00281298     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00210-002-0593-3     Document Type: Article

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