Matches in SemOpenAlex for { <https://semopenalex.org/work/W2415793608> ?p ?o ?g. }
- W2415793608 endingPage "166" @default.
- W2415793608 startingPage "157" @default.
- W2415793608 abstract "Defects in the genes coding for the skeletal muscle ryanodine receptor (RYR1) and alpha 1 subunit of the dihydropyridine receptor (CACNA1S) have been identified as causative for malignant hyperthermia (MH). Sixty-two MH susceptible individuals presenting to the same diagnostic centre had copy deoxyribonucleic acid, derived from muscle ribonucleic acid, sequenced to identify variants with the potential to be responsible for the MH phenotype in both RYR1 and CACNA1S. These genetic findings were combined with clinical episode details and in vitro contracture test results to improve our understanding of the Australian MH cohort. Twelve novel variants were identified in RYR1 and six in CACNA1S. Known RYR1 causative mutations were identified in six persons and novel variants in RYR1 and CACNA1S in a further 17 persons. Trends indicated higher mutation identification in those with more definitive clinical episodes and stronger in vitro contracture test responses." @default.
- W2415793608 created "2016-06-24" @default.
- W2415793608 creator A5040896211 @default.
- W2415793608 creator A5060421217 @default.
- W2415793608 creator A5084379112 @default.
- W2415793608 creator A5084632357 @default.
- W2415793608 date "2015-03-01" @default.
- W2415793608 modified "2023-10-14" @default.
- W2415793608 title "Analysis of the Entire Ryanodine Receptor type 1 and Alpha 1 Subunit of the Dihydropyridine Receptor (CACNA1S) Coding Regions for Variants Associated with Malignant Hyperthermia in Australian Families" @default.
- W2415793608 cites W108326765 @default.
- W2415793608 cites W1769734888 @default.
- W2415793608 cites W1965603501 @default.
- W2415793608 cites W1972157178 @default.
- W2415793608 cites W1976327996 @default.
- W2415793608 cites W1978547646 @default.
- W2415793608 cites W2000931006 @default.
- W2415793608 cites W2004018202 @default.
- W2415793608 cites W2005123575 @default.
- W2415793608 cites W2015043786 @default.
- W2415793608 cites W2018789282 @default.
- W2415793608 cites W2020123006 @default.
- W2415793608 cites W2022764001 @default.
- W2415793608 cites W2024929666 @default.
- W2415793608 cites W2035808268 @default.
- W2415793608 cites W2038473742 @default.
- W2415793608 cites W2045441794 @default.
- W2415793608 cites W2048551240 @default.
- W2415793608 cites W2058998963 @default.
- W2415793608 cites W2059145105 @default.
- W2415793608 cites W2066802263 @default.
- W2415793608 cites W2072931441 @default.
- W2415793608 cites W2087955851 @default.
- W2415793608 cites W2091517601 @default.
- W2415793608 cites W2096908902 @default.
- W2415793608 cites W2105468959 @default.
- W2415793608 cites W2112826014 @default.
- W2415793608 cites W2118397499 @default.
- W2415793608 cites W2138251630 @default.
- W2415793608 cites W2139746402 @default.
- W2415793608 cites W2145191876 @default.
- W2415793608 cites W2147493307 @default.
- W2415793608 cites W2149800618 @default.
- W2415793608 cites W2150181869 @default.
- W2415793608 cites W2151172068 @default.
- W2415793608 cites W2401910891 @default.
- W2415793608 cites W4248197639 @default.
- W2415793608 cites W4313371759 @default.
- W2415793608 doi "https://doi.org/10.1177/0310057x1504300204" @default.
- W2415793608 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25735680" @default.
- W2415793608 hasPublicationYear "2015" @default.
- W2415793608 type Work @default.
- W2415793608 sameAs 2415793608 @default.
- W2415793608 citedByCount "28" @default.
- W2415793608 countsByYear W24157936082016 @default.
- W2415793608 countsByYear W24157936082017 @default.
- W2415793608 countsByYear W24157936082018 @default.
- W2415793608 countsByYear W24157936082019 @default.
- W2415793608 countsByYear W24157936082020 @default.
- W2415793608 countsByYear W24157936082021 @default.
- W2415793608 countsByYear W24157936082022 @default.
- W2415793608 countsByYear W24157936082023 @default.
- W2415793608 crossrefType "journal-article" @default.
- W2415793608 hasAuthorship W2415793608A5040896211 @default.
- W2415793608 hasAuthorship W2415793608A5060421217 @default.
- W2415793608 hasAuthorship W2415793608A5084379112 @default.
- W2415793608 hasAuthorship W2415793608A5084632357 @default.
- W2415793608 hasBestOaLocation W24157936081 @default.
- W2415793608 hasConcept C113217602 @default.
- W2415793608 hasConcept C142724271 @default.
- W2415793608 hasConcept C170493617 @default.
- W2415793608 hasConcept C2776333580 @default.
- W2415793608 hasConcept C2777699224 @default.
- W2415793608 hasConcept C2778575482 @default.
- W2415793608 hasConcept C54355233 @default.
- W2415793608 hasConcept C60644358 @default.
- W2415793608 hasConcept C71924100 @default.
- W2415793608 hasConcept C86803240 @default.
- W2415793608 hasConceptScore W2415793608C113217602 @default.
- W2415793608 hasConceptScore W2415793608C142724271 @default.
- W2415793608 hasConceptScore W2415793608C170493617 @default.
- W2415793608 hasConceptScore W2415793608C2776333580 @default.
- W2415793608 hasConceptScore W2415793608C2777699224 @default.
- W2415793608 hasConceptScore W2415793608C2778575482 @default.
- W2415793608 hasConceptScore W2415793608C54355233 @default.
- W2415793608 hasConceptScore W2415793608C60644358 @default.
- W2415793608 hasConceptScore W2415793608C71924100 @default.
- W2415793608 hasConceptScore W2415793608C86803240 @default.
- W2415793608 hasIssue "2" @default.
- W2415793608 hasLocation W24157936081 @default.
- W2415793608 hasLocation W24157936082 @default.
- W2415793608 hasOpenAccess W2415793608 @default.
- W2415793608 hasPrimaryLocation W24157936081 @default.
- W2415793608 hasRelatedWork W1847988095 @default.
- W2415793608 hasRelatedWork W2004641923 @default.
- W2415793608 hasRelatedWork W2011925231 @default.
- W2415793608 hasRelatedWork W2051510879 @default.
- W2415793608 hasRelatedWork W2069273838 @default.
- W2415793608 hasRelatedWork W2091517601 @default.