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http://purl.uniprot.org/citations/11891837http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/11891837http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/11891837http://www.w3.org/2000/01/rdf-schema#comment"We report on a 25-year-old patient with isolated mitochondrial complex III deficiency and a new heteroplasmic mutation (T14849C) in the cytochrome b gene. He suffered from septo-optic dysplasia, retinitis pigmentosa, exercise intolerance, hypertrophic cardiomyopathy, and rhabdomyolysis. A HESX1 mutation was excluded as a cause of his septo-optic dysplasia. Low alpha-tocopherol concentrations in his muscles and an elevated urinary leukotriene E(4) excretion indicate increased production of reactive oxygen species."xsd:string
http://purl.uniprot.org/citations/11891837http://purl.org/dc/terms/identifier"doi:10.1002/ana.10151"xsd:string
http://purl.uniprot.org/citations/11891837http://purl.org/dc/terms/identifier"doi:10.1002/ana.10151"xsd:string
http://purl.uniprot.org/citations/11891837http://purl.uniprot.org/core/author"Mayatepek E."xsd:string
http://purl.uniprot.org/citations/11891837http://purl.uniprot.org/core/author"Mayatepek E."xsd:string
http://purl.uniprot.org/citations/11891837http://purl.uniprot.org/core/author"Schuelke M."xsd:string
http://purl.uniprot.org/citations/11891837http://purl.uniprot.org/core/author"Schuelke M."xsd:string
http://purl.uniprot.org/citations/11891837http://purl.uniprot.org/core/author"Smeitink J."xsd:string
http://purl.uniprot.org/citations/11891837http://purl.uniprot.org/core/author"Smeitink J."xsd:string
http://purl.uniprot.org/citations/11891837http://purl.uniprot.org/core/author"Janssen A."xsd:string
http://purl.uniprot.org/citations/11891837http://purl.uniprot.org/core/author"Janssen A."xsd:string
http://purl.uniprot.org/citations/11891837http://purl.uniprot.org/core/author"Krude H."xsd:string
http://purl.uniprot.org/citations/11891837http://purl.uniprot.org/core/author"Krude H."xsd:string
http://purl.uniprot.org/citations/11891837http://purl.uniprot.org/core/author"Finckh B."xsd:string
http://purl.uniprot.org/citations/11891837http://purl.uniprot.org/core/author"Finckh B."xsd:string
http://purl.uniprot.org/citations/11891837http://purl.uniprot.org/core/author"Schmelz M."xsd:string
http://purl.uniprot.org/citations/11891837http://purl.uniprot.org/core/author"Schmelz M."xsd:string
http://purl.uniprot.org/citations/11891837http://purl.uniprot.org/core/author"Trefz F."xsd:string
http://purl.uniprot.org/citations/11891837http://purl.uniprot.org/core/author"Trefz F."xsd:string
http://purl.uniprot.org/citations/11891837http://purl.uniprot.org/core/author"Trijbels F."xsd:string
http://purl.uniprot.org/citations/11891837http://purl.uniprot.org/core/author"Trijbels F."xsd:string
http://purl.uniprot.org/citations/11891837http://purl.uniprot.org/core/date"2002"xsd:gYear
http://purl.uniprot.org/citations/11891837http://purl.uniprot.org/core/date"2002"xsd:gYear