| http://purl.uniprot.org/citations/2137962 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/2137962 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/2137962 | http://www.w3.org/2000/01/rdf-schema#comment | "A variable combination of developmental delay, retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy occurred in four members of a family and was maternally transmitted. There was no histochemical evidence of mitochondrial myopathy. Blood and muscle from the patients contained two populations of mitochondrial DNA, one of which had a previously unreported restriction site for AvaI. Sequence analysis showed that this was due to a point mutation at nucleotide 8993, resulting in an amino acid change from a highly conserved leucine to arginine in subunit 6 of mitochondrial H(+)-ATPase. There was some correlation between clinical severity and the amount of mutant mitochondrial DNA in the patients; this was present in only small quantities in the blood of healthy elderly relatives in the same maternal line."xsd:string |
| http://purl.uniprot.org/citations/2137962 | http://purl.uniprot.org/core/author | "Harding A.E."xsd:string |
| http://purl.uniprot.org/citations/2137962 | http://purl.uniprot.org/core/author | "Harding A.E."xsd:string |
| http://purl.uniprot.org/citations/2137962 | http://purl.uniprot.org/core/author | "Holt I.J."xsd:string |
| http://purl.uniprot.org/citations/2137962 | http://purl.uniprot.org/core/author | "Holt I.J."xsd:string |
| http://purl.uniprot.org/citations/2137962 | http://purl.uniprot.org/core/author | "Morgan-Hughes J.A."xsd:string |
| http://purl.uniprot.org/citations/2137962 | http://purl.uniprot.org/core/author | "Morgan-Hughes J.A."xsd:string |
| http://purl.uniprot.org/citations/2137962 | http://purl.uniprot.org/core/author | "Petty R.K."xsd:string |
| http://purl.uniprot.org/citations/2137962 | http://purl.uniprot.org/core/author | "Petty R.K."xsd:string |
| http://purl.uniprot.org/citations/2137962 | http://purl.uniprot.org/core/date | "1990"xsd:gYear |
| http://purl.uniprot.org/citations/2137962 | http://purl.uniprot.org/core/date | "1990"xsd:gYear |
| http://purl.uniprot.org/citations/2137962 | http://purl.uniprot.org/core/name | "Am. J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/2137962 | http://purl.uniprot.org/core/name | "Am. J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/2137962 | http://purl.uniprot.org/core/pages | "428-433"xsd:string |
| http://purl.uniprot.org/citations/2137962 | http://purl.uniprot.org/core/pages | "428-433"xsd:string |
| http://purl.uniprot.org/citations/2137962 | http://purl.uniprot.org/core/title | "A new mitochondrial disease associated with mitochondrial DNA heteroplasmy."xsd:string |
| http://purl.uniprot.org/citations/2137962 | http://purl.uniprot.org/core/title | "A new mitochondrial disease associated with mitochondrial DNA heteroplasmy."xsd:string |
| http://purl.uniprot.org/citations/2137962 | http://purl.uniprot.org/core/volume | "46"xsd:string |
| http://purl.uniprot.org/citations/2137962 | http://purl.uniprot.org/core/volume | "46"xsd:string |
| http://purl.uniprot.org/citations/2137962 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/2137962 |
| http://purl.uniprot.org/citations/2137962 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/2137962 |
| http://purl.uniprot.org/citations/2137962 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/2137962 |
| http://purl.uniprot.org/citations/2137962 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/2137962 |