Matches in SemOpenAlex for { <https://semopenalex.org/work/W1978894955> ?p ?o ?g. }
Showing items 1 to 97 of
97
with 100 items per page.
- W1978894955 endingPage "199" @default.
- W1978894955 startingPage "194" @default.
- W1978894955 abstract "We have analyzed mitochondrial DNA sequence in 15 Russian LHON patients and found the new mtDNA sequence variant in one family (2 patients) who showed 100% penetrance of the disease in men. This family has a T14484C primary mutation, and four secondary mutations (T4216C, G13708A, G15812A, G15257A), which belong to the European haplogroup J. The new sequence variant of A9016G in the ATPase 6 gene changed highly conserved amino acid of isoleucine to valine, has not been found in the rest of 13 LHON patients and controls. This novel sequence variant may contribute to the 100% penetration of LHON disorder in men of this family." @default.
- W1978894955 created "2016-06-24" @default.
- W1978894955 creator A5001473255 @default.
- W1978894955 creator A5006923223 @default.
- W1978894955 creator A5030661177 @default.
- W1978894955 creator A5050312801 @default.
- W1978894955 creator A5063808040 @default.
- W1978894955 creator A5073091175 @default.
- W1978894955 creator A5077110435 @default.
- W1978894955 date "2005-06-01" @default.
- W1978894955 modified "2023-10-07" @default.
- W1978894955 title "A new sequence variant in mitochondrial DNA associated with high penetrance of Russian Leber hereditary optic neuropathy" @default.
- W1978894955 cites W1546375972 @default.
- W1978894955 cites W1983566669 @default.
- W1978894955 cites W2002896548 @default.
- W1978894955 cites W2003103396 @default.
- W1978894955 cites W2017347785 @default.
- W1978894955 cites W2050502424 @default.
- W1978894955 cites W2054620439 @default.
- W1978894955 cites W2076558464 @default.
- W1978894955 cites W2081390856 @default.
- W1978894955 cites W2109291482 @default.
- W1978894955 cites W2113825684 @default.
- W1978894955 cites W2115774939 @default.
- W1978894955 cites W2130026447 @default.
- W1978894955 cites W2139699261 @default.
- W1978894955 cites W4244588350 @default.
- W1978894955 doi "https://doi.org/10.1016/j.mito.2005.03.003" @default.
- W1978894955 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/16050984" @default.
- W1978894955 hasPublicationYear "2005" @default.
- W1978894955 type Work @default.
- W1978894955 sameAs 1978894955 @default.
- W1978894955 citedByCount "24" @default.
- W1978894955 countsByYear W19788949552012 @default.
- W1978894955 countsByYear W19788949552013 @default.
- W1978894955 countsByYear W19788949552014 @default.
- W1978894955 countsByYear W19788949552018 @default.
- W1978894955 countsByYear W19788949552019 @default.
- W1978894955 countsByYear W19788949552020 @default.
- W1978894955 countsByYear W19788949552021 @default.
- W1978894955 countsByYear W19788949552023 @default.
- W1978894955 crossrefType "journal-article" @default.
- W1978894955 hasAuthorship W1978894955A5001473255 @default.
- W1978894955 hasAuthorship W1978894955A5006923223 @default.
- W1978894955 hasAuthorship W1978894955A5030661177 @default.
- W1978894955 hasAuthorship W1978894955A5050312801 @default.
- W1978894955 hasAuthorship W1978894955A5063808040 @default.
- W1978894955 hasAuthorship W1978894955A5073091175 @default.
- W1978894955 hasAuthorship W1978894955A5077110435 @default.
- W1978894955 hasConcept C104317684 @default.
- W1978894955 hasConcept C127716648 @default.
- W1978894955 hasConcept C180754005 @default.
- W1978894955 hasConcept C197754878 @default.
- W1978894955 hasConcept C200544954 @default.
- W1978894955 hasConcept C201526758 @default.
- W1978894955 hasConcept C24586158 @default.
- W1978894955 hasConcept C2777056713 @default.
- W1978894955 hasConcept C2778112365 @default.
- W1978894955 hasConcept C501734568 @default.
- W1978894955 hasConcept C54355233 @default.
- W1978894955 hasConcept C78450430 @default.
- W1978894955 hasConcept C86803240 @default.
- W1978894955 hasConceptScore W1978894955C104317684 @default.
- W1978894955 hasConceptScore W1978894955C127716648 @default.
- W1978894955 hasConceptScore W1978894955C180754005 @default.
- W1978894955 hasConceptScore W1978894955C197754878 @default.
- W1978894955 hasConceptScore W1978894955C200544954 @default.
- W1978894955 hasConceptScore W1978894955C201526758 @default.
- W1978894955 hasConceptScore W1978894955C24586158 @default.
- W1978894955 hasConceptScore W1978894955C2777056713 @default.
- W1978894955 hasConceptScore W1978894955C2778112365 @default.
- W1978894955 hasConceptScore W1978894955C501734568 @default.
- W1978894955 hasConceptScore W1978894955C54355233 @default.
- W1978894955 hasConceptScore W1978894955C78450430 @default.
- W1978894955 hasConceptScore W1978894955C86803240 @default.
- W1978894955 hasIssue "3" @default.
- W1978894955 hasLocation W19788949551 @default.
- W1978894955 hasLocation W19788949552 @default.
- W1978894955 hasOpenAccess W1978894955 @default.
- W1978894955 hasPrimaryLocation W19788949551 @default.
- W1978894955 hasRelatedWork W2008592651 @default.
- W1978894955 hasRelatedWork W2065062182 @default.
- W1978894955 hasRelatedWork W2074170590 @default.
- W1978894955 hasRelatedWork W2145731642 @default.
- W1978894955 hasRelatedWork W2152409391 @default.
- W1978894955 hasRelatedWork W2157256149 @default.
- W1978894955 hasRelatedWork W2417474783 @default.
- W1978894955 hasRelatedWork W2529105977 @default.
- W1978894955 hasRelatedWork W2554365488 @default.
- W1978894955 hasRelatedWork W3153963134 @default.
- W1978894955 hasVolume "5" @default.
- W1978894955 isParatext "false" @default.
- W1978894955 isRetracted "false" @default.
- W1978894955 magId "1978894955" @default.
- W1978894955 workType "article" @default.