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

Journal of Medical Genetics

Volumn 34, Issue 4, 1997, Pages 291-296

  Keating, Katherine E ^a   Giblin, Linda ^a   Lynch, Patrick J ^a   Quane, Kathleen A ^a   Lehane, Mary ^b   Heffron, James J A ^a   McCarthy, Tommie V ^a  

^a UNIVERSITY COLLEGE CORK   (Ireland)

^b Cork University Hospital ^*  (Ireland)

Author keywords

In vitro contracture test; Malignant hyperthermia; Novel mutation; Ryanodine receptor

Indexed keywords

ARGININE; CAFFEINE; HALOTHANE; RYANODINE RECEPTOR; TETRAMER; TRYPTOPHAN;

ALLELE; AMINO ACID SUBSTITUTION; ANESTHESIA COMPLICATION; ANIMAL TISSUE; ARTICLE; CAUSE OF DEATH; CLINICAL ARTICLE; FEMALE; GENE MUTATION; HAPLOTYPE; HUMAN; IRELAND; MALE; MALIGNANT HYPERTHERMIA; MUSCLE CONTRACTURE; PEDIGREE; PRIORITY JOURNAL; SKELETAL MUSCLE;

ANIMALIA;

EID: 0031009547     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.4.291     Document Type: Article

References (10)

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