Identification of the Arg1086His mutation in the alpha subunit of the voltage-dependent calcium channel (CACNA1S) in a North American family with malignant hyperthermia

Clinical Genetics

Volumn 59, Issue 3, 2001, Pages 178-184

  Stewart, S L ^a   Hogan, K ^b   Rosenberg, H ^c   Fletcher, Je ^d  

^a GEORGETOWN UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

^c THOMAS JEFFERSON UNIVERSITY   (United States)

^d Trinity Communications   (United States)

Author keywords

CACNA1S; DHPR; DNA; Genetics; Malignant hyperthermia; MH susceptibility; Mutations; RYR1

Indexed keywords

ARGININE; CAFFEINE; CALCIUM CHANNEL L TYPE; HALOTHANE; HISTIDINE; RESTRICTION ENDONUCLEASE;

ALPHA CHAIN; ARTICLE; CHILD; CLINICAL PROTOCOL; CONTROLLED STUDY; DISEASE ASSOCIATION; ENZYME ANALYSIS; FAMILY STUDY; FATHER; GENE MUTATION; GENETIC DISORDER; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; HUMAN; HUMAN TISSUE; IN VITRO STUDY; INCIDENCE; MAJOR CLINICAL STUDY; MALIGNANT HYPERTHERMIA; MUSCLE BIOPSY; MUSCLE CONTRACTURE; NORTH AMERICA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SKELETAL MUSCLE;

ANIMALS; BASE SEQUENCE; CALCIUM CHANNELS, L-TYPE; DNA; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MALIGNANT HYPERTHERMIA; MOLECULAR SEQUENCE DATA; NORTH AMERICA; PEDIGREE; POINT MUTATION; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL; SEQUENCE ANALYSIS, DNA; SWINE;

EID: 0035096493     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2001.590306.x     Document Type: Article

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