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| http://purl.uniprot.org/citations/11695836 | http://www.w3.org/2000/01/rdf-schema#comment | "NADH:ubiquinone oxidoreductase consists of at least 43 proteins; seven are encoded by the mitochondrial genome, while the remainder are encoded by the nuclear genome. A deficient activity of this enzyme complex is frequently observed in the clinical heterogeneous group of mitochondrial disorders, with Leigh (-like) disease as the main contributor. Enzyme complex activity measurement in skeletal muscle is the mainstay of the diagnostic process. Fibroblast studies are a prerequisite whenever prenatal enzyme diagnosis is considered. Mitochondrial DNA mutations are found in approximately 5-10% of all complex I deficiencies. Recently, all structural nuclear complex I genes have been determined at the cDNA level and several at the gDNA level. A comprehensive mutational analysis study of all complex I nuclear genes in a group of 20 patients exhibiting this deficiency revealed mutations in about 40%. Here, we describe the enzymic methods we use and the recent progress made in genomics and cell biology of human complex I."xsd:string |
| http://purl.uniprot.org/citations/11695836 | http://purl.org/dc/terms/identifier | "doi:10.1023/a:1010743321800"xsd:string |
| http://purl.uniprot.org/citations/11695836 | http://purl.uniprot.org/core/author | "Smeitink J."xsd:string |
| http://purl.uniprot.org/citations/11695836 | http://purl.uniprot.org/core/author | "van den Heuvel L."xsd:string |
| http://purl.uniprot.org/citations/11695836 | http://purl.uniprot.org/core/author | "Trijbels F."xsd:string |
| http://purl.uniprot.org/citations/11695836 | http://purl.uniprot.org/core/author | "Sengers R."xsd:string |
| http://purl.uniprot.org/citations/11695836 | http://purl.uniprot.org/core/date | "2001"xsd:gYear |
| http://purl.uniprot.org/citations/11695836 | http://purl.uniprot.org/core/name | "J Bioenerg Biomembr"xsd:string |
| http://purl.uniprot.org/citations/11695836 | http://purl.uniprot.org/core/pages | "259-266"xsd:string |
| http://purl.uniprot.org/citations/11695836 | http://purl.uniprot.org/core/title | "Human NADH:ubiquinone oxidoreductase."xsd:string |
| http://purl.uniprot.org/citations/11695836 | http://purl.uniprot.org/core/volume | "33"xsd:string |
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