Exome sequencing reveals novel rare variants in the ryanodine receptor and calcium channel genes in malignant hyperthermia families

Anesthesiology

Volumn 119, Issue 5, 2013, Pages 1054-1065

  Kim, Jerry H ^a   Jarvik, Gail P ^b   Browning, Brian L ^b   Rajagopalan, Ramakrishna ^b   Gordon, Adam S ^a   Rieder, Mark J ^a   Robertson, Peggy D ^a   Nickerson, Deborah A ^a   Fisher, Nickla A ^c   Hopkins, Philip M ^c  

^a UNIVERSITY OF WASHINGTON   (United States)

^b Division of Medical Genetics   (India)

^c UNIVERSITY OF LEEDS   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM CHANNEL; CALCIUM CHANNEL L TYPE ALPHA 1S; COMPLEMENTARY DNA; GENOMIC DNA; RYANODINE RECEPTOR 1; UNCLASSIFIED DRUG;

ARTICLE; CACNA1S GENE; CONTROLLED STUDY; EXOME; FAMILY STUDY; FOLLOW UP; GENE; GENE FREQUENCY; GENE MUTATION; GENE SEGREGATION; GENE SEQUENCE; GENETIC CONSERVATION; GENETIC DISTANCE; GENETIC LINKAGE; GENETIC VARIABILITY; GENOTYPE; HUMAN; MALIGNANT HYPERTHERMIA; PRIORITY JOURNAL; SEGREGATION ANALYSIS;

ALGORITHMS; CALCIUM CHANNELS; CONSERVED SEQUENCE; DATABASES, GENETIC; DNA, COMPLEMENTARY; EXOME; EXONS; FOLLOW-UP STUDIES; HUMANS; LOD SCORE; MALIGNANT HYPERTHERMIA; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL;

EID: 84888247803     PISSN: 00033022     EISSN: 15281175     Source Type: Journal    
DOI: 10.1097/ALN.0b013e3182a8a998     Document Type: Article

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