FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1979582811> ?p ?o ?g. }

• W1979582811 endingPage "94" @default.
• W1979582811 startingPage "89" @default.
• W1979582811 abstract "Mitochondrial mutations have been shown to be responsible for syndromic as well as non-syndromic hearing loss. The G7444A mitochondrial DNA mutation affects COI/the precursor of tRNA(Ser(UCN)), encoding the first subunit of cytochrome oxidase. Here we report on the first Greek family with the G7444A mitochondrial DNA mutation.Clinical, cytogenetic, and molecular methods were employed in this study.We describe the high variability of phenotypes among three family members harboring the G7444A mutation and also the frequent GJB2 c.35delG mutation of the nuclear genome in heterozygosity. Their phenotypes ranged from normal hearing to deafness, while the proband presented with several other symptoms.The G7444A mitochondrial DNA mutation has been reported in only a few cases worldwide, alone or in cosegregation with other mitochondrial DNA mutations, but to our knowledge, never before in coexistence with the GJB2 c.35delG mutation." @default.
• W1979582811 created "2016-06-24" @default.
• W1979582811 creator A5001726668 @default.
• W1979582811 creator A5004639478 @default.
• W1979582811 creator A5010714367 @default.
• W1979582811 creator A5015022724 @default.
• W1979582811 creator A5020192164 @default.
• W1979582811 creator A5021971105 @default.
• W1979582811 creator A5024880809 @default.
• W1979582811 creator A5026408247 @default.
• W1979582811 creator A5043458252 @default.
• W1979582811 creator A5048649107 @default.
• W1979582811 creator A5073440175 @default.
• W1979582811 creator A5075390255 @default.
• W1979582811 creator A5077184472 @default.
• W1979582811 date "2011-01-01" @default.
• W1979582811 modified "2023-10-16" @default.
• W1979582811 title "Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss" @default.
• W1979582811 cites W1546375972 @default.
• W1979582811 cites W1978905246 @default.
• W1979582811 cites W1979094655 @default.
• W1979582811 cites W1979182088 @default.
• W1979582811 cites W1983857347 @default.
• W1979582811 cites W1983861379 @default.
• W1979582811 cites W1990904958 @default.
• W1979582811 cites W1999321816 @default.
• W1979582811 cites W2000840085 @default.
• W1979582811 cites W2003103396 @default.
• W1979582811 cites W2009581629 @default.
• W1979582811 cites W2013846363 @default.
• W1979582811 cites W2015655104 @default.
• W1979582811 cites W2016486719 @default.
• W1979582811 cites W2023929520 @default.
• W1979582811 cites W2038524285 @default.
• W1979582811 cites W2042120426 @default.
• W1979582811 cites W2042982062 @default.
• W1979582811 cites W2044533064 @default.
• W1979582811 cites W2045023193 @default.
• W1979582811 cites W2046037690 @default.
• W1979582811 cites W2050576557 @default.
• W1979582811 cites W2059722762 @default.
• W1979582811 cites W2065619480 @default.
• W1979582811 cites W2077134026 @default.
• W1979582811 cites W2079640584 @default.
• W1979582811 cites W2080934081 @default.
• W1979582811 cites W2085493166 @default.
• W1979582811 cites W2088655735 @default.
• W1979582811 cites W2101649826 @default.
• W1979582811 cites W2102957844 @default.
• W1979582811 cites W2105532685 @default.
• W1979582811 cites W2109291482 @default.
• W1979582811 cites W2112534830 @default.
• W1979582811 cites W2118094114 @default.
• W1979582811 cites W2119744081 @default.
• W1979582811 cites W2326122757 @default.
• W1979582811 cites W2370781167 @default.
• W1979582811 cites W4249448382 @default.
• W1979582811 cites W4250644978 @default.
• W1979582811 doi "https://doi.org/10.1016/j.ijporl.2010.10.016" @default.
• W1979582811 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21056478" @default.
• W1979582811 hasPublicationYear "2011" @default.
• W1979582811 type Work @default.
• W1979582811 sameAs 1979582811 @default.
• W1979582811 citedByCount "9" @default.
• W1979582811 countsByYear W19795828112013 @default.
• W1979582811 countsByYear W19795828112014 @default.
• W1979582811 countsByYear W19795828112015 @default.
• W1979582811 countsByYear W19795828112016 @default.
• W1979582811 countsByYear W19795828112019 @default.
• W1979582811 countsByYear W19795828112020 @default.
• W1979582811 countsByYear W19795828112022 @default.
• W1979582811 crossrefType "journal-article" @default.
• W1979582811 hasAuthorship W1979582811A5001726668 @default.
• W1979582811 hasAuthorship W1979582811A5004639478 @default.
• W1979582811 hasAuthorship W1979582811A5010714367 @default.
• W1979582811 hasAuthorship W1979582811A5015022724 @default.
• W1979582811 hasAuthorship W1979582811A5020192164 @default.
• W1979582811 hasAuthorship W1979582811A5021971105 @default.
• W1979582811 hasAuthorship W1979582811A5024880809 @default.
• W1979582811 hasAuthorship W1979582811A5026408247 @default.
• W1979582811 hasAuthorship W1979582811A5043458252 @default.
• W1979582811 hasAuthorship W1979582811A5048649107 @default.
• W1979582811 hasAuthorship W1979582811A5073440175 @default.
• W1979582811 hasAuthorship W1979582811A5075390255 @default.
• W1979582811 hasAuthorship W1979582811A5077184472 @default.
• W1979582811 hasConcept C104317684 @default.
• W1979582811 hasConcept C12125453 @default.
• W1979582811 hasConcept C123249941 @default.
• W1979582811 hasConcept C127716648 @default.
• W1979582811 hasConcept C143589142 @default.
• W1979582811 hasConcept C180754005 @default.
• W1979582811 hasConcept C188997412 @default.
• W1979582811 hasConcept C24586158 @default.
• W1979582811 hasConcept C2780493683 @default.
• W1979582811 hasConcept C28859421 @default.
• W1979582811 hasConcept C501734568 @default.
• W1979582811 hasConcept C54355233 @default.
• W1979582811 hasConcept C548259974 @default.

• next