FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2070682409> ?p ?o ?g. }

• W2070682409 endingPage "382" @default.
• W2070682409 startingPage "382" @default.
• W2070682409 abstract "We describe an 8-day-old baby girl presenting a fatal infantile form of hypertrophic obstructive cardiomyopathy, associated with an A8296G mutation in the mitochondrial tRNALys gene. She was born from a healthy unrelated couple, and was the first infant of dizygotic twins. Soon after birth, she was noted to have tachypnea and generalized hypotonia. She had high levels of lactate and pyruvate, and was diagnosed as having hypertrophic cardiomyopathy using echocardiography. She died by cardiac failure. Mitochondrial DNA analysis was performed by sequencing after PCR-subcloning methods, and the percentage of mutation was measured using PCR-RFLP methods. In various tissues obtained at autopsy, analysis showed a heteroplasmic population of A8296G mutation in the mitochondrial tRNALys gene in all the tissues examined. Maternal inheritance was demonstrated in the family members. Our data demonstrated that an A8296G mutation in the mitochondrial tRNALys gene showed clinical heterogeneity from a milder form previously reported as mitochondrial diabetes mellitus, to a more severe form as hypertrophic obstructive cardiomyopathy, according to the spatial distribution of this mutation. Hum Mutat 15:382, 2000. © 2000 Wiley-Liss, Inc." @default.
• W2070682409 created "2016-06-24" @default.
• W2070682409 creator A5039702145 @default.
• W2070682409 creator A5043081618 @default.
• W2070682409 creator A5058309861 @default.
• W2070682409 creator A5062077013 @default.
• W2070682409 creator A5063808040 @default.
• W2070682409 creator A5077110435 @default.
• W2070682409 creator A5084895308 @default.
• W2070682409 creator A5090501626 @default.
• W2070682409 date "2000-04-01" @default.
• W2070682409 modified "2023-10-12" @default.
• W2070682409 title "Fatal hypertrophic cardiomyopathy associated with an A8296G mutation in the mitochondrial tRNALys gene" @default.
• W2070682409 cites W1538214352 @default.
• W2070682409 cites W1593732853 @default.
• W2070682409 cites W1744896556 @default.
• W2070682409 cites W1964630690 @default.
• W2070682409 cites W1972925152 @default.
• W2070682409 cites W1974123408 @default.
• W2070682409 cites W1986432875 @default.
• W2070682409 cites W1992307061 @default.
• W2070682409 cites W1994165455 @default.
• W2070682409 cites W1998078998 @default.
• W2070682409 cites W2007122274 @default.
• W2070682409 cites W2045254914 @default.
• W2070682409 cites W2047034700 @default.
• W2070682409 cites W2074168178 @default.
• W2070682409 cites W2078479092 @default.
• W2070682409 cites W2104018711 @default.
• W2070682409 cites W2115765138 @default.
• W2070682409 cites W2162973898 @default.
• W2070682409 cites W2338125871 @default.
• W2070682409 cites W2913390582 @default.
• W2070682409 doi "https://doi.org/10.1002/(sici)1098-1004(200004)15:4<382::aid-humu15>3.0.co;2-b" @default.
• W2070682409 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10737988" @default.
• W2070682409 hasPublicationYear "2000" @default.
• W2070682409 type Work @default.
• W2070682409 sameAs 2070682409 @default.
• W2070682409 citedByCount "34" @default.
• W2070682409 countsByYear W20706824092012 @default.
• W2070682409 countsByYear W20706824092013 @default.
• W2070682409 countsByYear W20706824092016 @default.
• W2070682409 countsByYear W20706824092020 @default.
• W2070682409 countsByYear W20706824092021 @default.
• W2070682409 countsByYear W20706824092022 @default.
• W2070682409 countsByYear W20706824092023 @default.
• W2070682409 crossrefType "journal-article" @default.
• W2070682409 hasAuthorship W2070682409A5039702145 @default.
• W2070682409 hasAuthorship W2070682409A5043081618 @default.
• W2070682409 hasAuthorship W2070682409A5058309861 @default.
• W2070682409 hasAuthorship W2070682409A5062077013 @default.
• W2070682409 hasAuthorship W2070682409A5063808040 @default.
• W2070682409 hasAuthorship W2070682409A5077110435 @default.
• W2070682409 hasAuthorship W2070682409A5084895308 @default.
• W2070682409 hasAuthorship W2070682409A5090501626 @default.
• W2070682409 hasBestOaLocation W20706824091 @default.
• W2070682409 hasConcept C104317684 @default.
• W2070682409 hasConcept C126322002 @default.
• W2070682409 hasConcept C181561989 @default.
• W2070682409 hasConcept C24586158 @default.
• W2070682409 hasConcept C2780185194 @default.
• W2070682409 hasConcept C2994225774 @default.
• W2070682409 hasConcept C501734568 @default.
• W2070682409 hasConcept C54355233 @default.
• W2070682409 hasConcept C55493867 @default.
• W2070682409 hasConcept C69218264 @default.
• W2070682409 hasConcept C71924100 @default.
• W2070682409 hasConcept C86803240 @default.
• W2070682409 hasConceptScore W2070682409C104317684 @default.
• W2070682409 hasConceptScore W2070682409C126322002 @default.
• W2070682409 hasConceptScore W2070682409C181561989 @default.
• W2070682409 hasConceptScore W2070682409C24586158 @default.
• W2070682409 hasConceptScore W2070682409C2780185194 @default.
• W2070682409 hasConceptScore W2070682409C2994225774 @default.
• W2070682409 hasConceptScore W2070682409C501734568 @default.
• W2070682409 hasConceptScore W2070682409C54355233 @default.
• W2070682409 hasConceptScore W2070682409C55493867 @default.
• W2070682409 hasConceptScore W2070682409C69218264 @default.
• W2070682409 hasConceptScore W2070682409C71924100 @default.
• W2070682409 hasConceptScore W2070682409C86803240 @default.
• W2070682409 hasIssue "4" @default.
• W2070682409 hasLocation W20706824091 @default.
• W2070682409 hasLocation W20706824092 @default.
• W2070682409 hasOpenAccess W2070682409 @default.
• W2070682409 hasPrimaryLocation W20706824091 @default.
• W2070682409 hasRelatedWork W2054478802 @default.
• W2070682409 hasRelatedWork W2064996134 @default.
• W2070682409 hasRelatedWork W2071668318 @default.
• W2070682409 hasRelatedWork W2106693760 @default.
• W2070682409 hasRelatedWork W2127324770 @default.
• W2070682409 hasRelatedWork W2590366704 @default.
• W2070682409 hasRelatedWork W2898501112 @default.
• W2070682409 hasRelatedWork W2980068720 @default.
• W2070682409 hasRelatedWork W4229565516 @default.
• W2070682409 hasRelatedWork W4246271421 @default.
• W2070682409 hasVolume "15" @default.
• W2070682409 isParatext "false" @default.
• W2070682409 isRetracted "false" @default.

• next