Matches in SemOpenAlex for { <https://semopenalex.org/work/W1947172373> ?p ?o ?g. }
Showing items 1 to 95 of
95
with 100 items per page.
- W1947172373 endingPage "22" @default.
- W1947172373 startingPage "715" @default.
- W1947172373 abstract "Skeletal muscle mtDNA of three patients with mitochondrial encephalomyopathy, characterized clinically by myoclonic epilepsy and ragged-red fiber (MERRF) syndrome, has been sequenced to determine the underlying molecular defect(s). An A-to-G substitution of nt 8344 in the tRNA(Lys) gene, a substitution suggested to be associated with MERRF encephalomyopathy, was detected in these patients. Abnormal patterns of mitochondrial translation products were observed in the skeletal muscle of patients, consistent with the expected consequential defect in protein synthesis. The genealogical studies of the three patients, as well as mtDNA from one published MERRF patient and from nine other normal and disease controls, revealed that the tRNA(Lys) mutations in the MERRF patients have arisen independently. These observations provided evidence that the base substitution is a causal mutation for MERRF." @default.
- W1947172373 created "2016-06-24" @default.
- W1947172373 creator A5003635603 @default.
- W1947172373 creator A5008902641 @default.
- W1947172373 creator A5011401177 @default.
- W1947172373 creator A5049028244 @default.
- W1947172373 creator A5051775643 @default.
- W1947172373 creator A5075375497 @default.
- W1947172373 creator A5078303617 @default.
- W1947172373 creator A5078507372 @default.
- W1947172373 date "1991-10-01" @default.
- W1947172373 modified "2023-10-01" @default.
- W1947172373 title "A tRNA(Lys) mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome." @default.
- W1947172373 cites W1581413557 @default.
- W1947172373 cites W158953621 @default.
- W1947172373 cites W1596996150 @default.
- W1947172373 cites W1968746186 @default.
- W1947172373 cites W1970081885 @default.
- W1947172373 cites W1995724276 @default.
- W1947172373 cites W2032118018 @default.
- W1947172373 cites W2035671813 @default.
- W1947172373 cites W2042769356 @default.
- W1947172373 cites W2061574765 @default.
- W1947172373 cites W2091111647 @default.
- W1947172373 cites W2104018711 @default.
- W1947172373 cites W2109291482 @default.
- W1947172373 cites W2142168650 @default.
- W1947172373 cites W4234124119 @default.
- W1947172373 cites W6867406 @default.
- W1947172373 cites W2199798752 @default.
- W1947172373 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1683178" @default.
- W1947172373 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/1910259" @default.
- W1947172373 hasPublicationYear "1991" @default.
- W1947172373 type Work @default.
- W1947172373 sameAs 1947172373 @default.
- W1947172373 citedByCount "43" @default.
- W1947172373 countsByYear W19471723732012 @default.
- W1947172373 countsByYear W19471723732013 @default.
- W1947172373 countsByYear W19471723732015 @default.
- W1947172373 countsByYear W19471723732016 @default.
- W1947172373 countsByYear W19471723732017 @default.
- W1947172373 countsByYear W19471723732018 @default.
- W1947172373 countsByYear W19471723732019 @default.
- W1947172373 countsByYear W19471723732021 @default.
- W1947172373 countsByYear W19471723732023 @default.
- W1947172373 crossrefType "journal-article" @default.
- W1947172373 hasAuthorship W1947172373A5003635603 @default.
- W1947172373 hasAuthorship W1947172373A5008902641 @default.
- W1947172373 hasAuthorship W1947172373A5011401177 @default.
- W1947172373 hasAuthorship W1947172373A5049028244 @default.
- W1947172373 hasAuthorship W1947172373A5051775643 @default.
- W1947172373 hasAuthorship W1947172373A5075375497 @default.
- W1947172373 hasAuthorship W1947172373A5078303617 @default.
- W1947172373 hasAuthorship W1947172373A5078507372 @default.
- W1947172373 hasConcept C104317684 @default.
- W1947172373 hasConcept C169760540 @default.
- W1947172373 hasConcept C24586158 @default.
- W1947172373 hasConcept C2775833069 @default.
- W1947172373 hasConcept C2775859823 @default.
- W1947172373 hasConcept C2778186239 @default.
- W1947172373 hasConcept C2779799828 @default.
- W1947172373 hasConcept C501734568 @default.
- W1947172373 hasConcept C54355233 @default.
- W1947172373 hasConcept C86803240 @default.
- W1947172373 hasConceptScore W1947172373C104317684 @default.
- W1947172373 hasConceptScore W1947172373C169760540 @default.
- W1947172373 hasConceptScore W1947172373C24586158 @default.
- W1947172373 hasConceptScore W1947172373C2775833069 @default.
- W1947172373 hasConceptScore W1947172373C2775859823 @default.
- W1947172373 hasConceptScore W1947172373C2778186239 @default.
- W1947172373 hasConceptScore W1947172373C2779799828 @default.
- W1947172373 hasConceptScore W1947172373C501734568 @default.
- W1947172373 hasConceptScore W1947172373C54355233 @default.
- W1947172373 hasConceptScore W1947172373C86803240 @default.
- W1947172373 hasIssue "4" @default.
- W1947172373 hasLocation W19471723731 @default.
- W1947172373 hasOpenAccess W1947172373 @default.
- W1947172373 hasPrimaryLocation W19471723731 @default.
- W1947172373 hasRelatedWork W1983809647 @default.
- W1947172373 hasRelatedWork W2011973496 @default.
- W1947172373 hasRelatedWork W2028422348 @default.
- W1947172373 hasRelatedWork W2030086283 @default.
- W1947172373 hasRelatedWork W2056807771 @default.
- W1947172373 hasRelatedWork W2057403340 @default.
- W1947172373 hasRelatedWork W2408685350 @default.
- W1947172373 hasRelatedWork W3105824273 @default.
- W1947172373 hasRelatedWork W3120595412 @default.
- W1947172373 hasRelatedWork W2062345195 @default.
- W1947172373 hasVolume "49" @default.
- W1947172373 isParatext "false" @default.
- W1947172373 isRetracted "false" @default.
- W1947172373 magId "1947172373" @default.
- W1947172373 workType "article" @default.