Identification of a novel mutation in the ryanodine receptor gene (RYR1) in a malignant hyperthermia...
Identification of a novel mutation in the ryanodine receptor gene (RYR1) in a malignant hyperthermia Italian family
About this item
Full title
Author / Creator
Publisher
England: Nature Publishing Group
Journal title
Language
English
Formats
Publication information
Publisher
England: Nature Publishing Group
Subjects
More information
Scope and Contents
Contents
Malignant hyperthermia (MH) is an inherited autosomal dominant pharmacogenetic disorder and is one of the main causes of death subsequent to anaesthesia. Around 50% of affected families are linked to the ryanodine receptor (RYR1) gene. To date, 19 mutations have been identified in the coding region of this gene and appear to be associated with the...
Alternative Titles
Full title
Identification of a novel mutation in the ryanodine receptor gene (RYR1) in a malignant hyperthermia Italian family
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_754894132
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_754894132
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/sj.ejhg.5200428
