| http://purl.uniprot.org/citations/11601507 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11601507 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11601507 | http://www.w3.org/2000/01/rdf-schema#comment | "Mitochondrial cytochrome b mutations have been reported to have a homogenous phenotype of pure exercise intolerance. We describe a novel mutation in the cytochrome b gene of mitochondrial DNA (A15579G) associated with a selective decrease of muscle complex III activity in a patient who, besides severe exercise intolerance, also has multisystem manifestations (deafness, mental retardation, retinitis pigmentosa, cataract, growth retardation, epilepsy). The point mutation is heteroplasmic in muscle (88%) and leukocytes (15%), and changes a highly conserved tyrosine to cysteine at amino acid position 278."xsd:string |
| http://purl.uniprot.org/citations/11601507 | http://purl.org/dc/terms/identifier | "doi:10.1002/ana.1224"xsd:string |
| http://purl.uniprot.org/citations/11601507 | http://purl.org/dc/terms/identifier | "doi:10.1002/ana.1224"xsd:string |
| http://purl.uniprot.org/citations/11601507 | http://purl.uniprot.org/core/author | "Wibrand F."xsd:string |
| http://purl.uniprot.org/citations/11601507 | http://purl.uniprot.org/core/author | "Wibrand F."xsd:string |
| http://purl.uniprot.org/citations/11601507 | http://purl.uniprot.org/core/author | "Schwartz M."xsd:string |
| http://purl.uniprot.org/citations/11601507 | http://purl.uniprot.org/core/author | "Schwartz M."xsd:string |
| http://purl.uniprot.org/citations/11601507 | http://purl.uniprot.org/core/author | "Horn N."xsd:string |
| http://purl.uniprot.org/citations/11601507 | http://purl.uniprot.org/core/author | "Horn N."xsd:string |
| http://purl.uniprot.org/citations/11601507 | http://purl.uniprot.org/core/author | "Rosenberg T."xsd:string |
| http://purl.uniprot.org/citations/11601507 | http://purl.uniprot.org/core/author | "Rosenberg T."xsd:string |
| http://purl.uniprot.org/citations/11601507 | http://purl.uniprot.org/core/author | "Vissing J."xsd:string |
| http://purl.uniprot.org/citations/11601507 | http://purl.uniprot.org/core/author | "Vissing J."xsd:string |
| http://purl.uniprot.org/citations/11601507 | http://purl.uniprot.org/core/author | "Ravn K."xsd:string |
| http://purl.uniprot.org/citations/11601507 | http://purl.uniprot.org/core/author | "Ravn K."xsd:string |
| http://purl.uniprot.org/citations/11601507 | http://purl.uniprot.org/core/date | "2001"xsd:gYear |
| http://purl.uniprot.org/citations/11601507 | http://purl.uniprot.org/core/date | "2001"xsd:gYear |
| http://purl.uniprot.org/citations/11601507 | http://purl.uniprot.org/core/name | "Ann. Neurol."xsd:string |
| http://purl.uniprot.org/citations/11601507 | http://purl.uniprot.org/core/name | "Ann. Neurol."xsd:string |
| http://purl.uniprot.org/citations/11601507 | http://purl.uniprot.org/core/pages | "540-543"xsd:string |
| http://purl.uniprot.org/citations/11601507 | http://purl.uniprot.org/core/pages | "540-543"xsd:string |
| http://purl.uniprot.org/citations/11601507 | http://purl.uniprot.org/core/title | "Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene."xsd:string |
| http://purl.uniprot.org/citations/11601507 | http://purl.uniprot.org/core/title | "Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene."xsd:string |