| http://purl.uniprot.org/citations/18499082 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18499082 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18499082 | http://www.w3.org/2000/01/rdf-schema#comment | "Cytochrome c oxidase (COX) deficiency, one of the most common respiratory-chain defects in humans, has been associated with mutations in either mitochondrial DNA genes or nucleus-encoded proteins that are not part in but promote the biogenesis of COX. Mutations of nucleus-encoded structural subunits were sought for but never found in COX-defective patients, leading to the conjecture that they may be incompatible with extra-uterine survival. We report a disease-associated mutation in one such subunit, COX6B1. Nuclear-encoded COX genes should be reconsidered and included in the diagnostic mutational screening of human disorders related to COX deficiency."xsd:string |
| http://purl.uniprot.org/citations/18499082 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2008.05.002"xsd:string |
| http://purl.uniprot.org/citations/18499082 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2008.05.002"xsd:string |
| http://purl.uniprot.org/citations/18499082 | http://purl.uniprot.org/core/author | "Massa V."xsd:string |
| http://purl.uniprot.org/citations/18499082 | http://purl.uniprot.org/core/author | "Massa V."xsd:string |
| http://purl.uniprot.org/citations/18499082 | http://purl.uniprot.org/core/author | "Ferrero I."xsd:string |
| http://purl.uniprot.org/citations/18499082 | http://purl.uniprot.org/core/author | "Ferrero I."xsd:string |
| http://purl.uniprot.org/citations/18499082 | http://purl.uniprot.org/core/author | "Goffrini P."xsd:string |
| http://purl.uniprot.org/citations/18499082 | http://purl.uniprot.org/core/author | "Goffrini P."xsd:string |
| http://purl.uniprot.org/citations/18499082 | http://purl.uniprot.org/core/author | "Zeviani M."xsd:string |
| http://purl.uniprot.org/citations/18499082 | http://purl.uniprot.org/core/author | "Zeviani M."xsd:string |
| http://purl.uniprot.org/citations/18499082 | http://purl.uniprot.org/core/author | "Bakhsh E."xsd:string |
| http://purl.uniprot.org/citations/18499082 | http://purl.uniprot.org/core/author | "Bakhsh E."xsd:string |
| http://purl.uniprot.org/citations/18499082 | http://purl.uniprot.org/core/author | "D'Adamo P."xsd:string |
| http://purl.uniprot.org/citations/18499082 | http://purl.uniprot.org/core/author | "D'Adamo P."xsd:string |
| http://purl.uniprot.org/citations/18499082 | http://purl.uniprot.org/core/author | "Gasparini P."xsd:string |
| http://purl.uniprot.org/citations/18499082 | http://purl.uniprot.org/core/author | "Gasparini P."xsd:string |
| http://purl.uniprot.org/citations/18499082 | http://purl.uniprot.org/core/author | "Fernandez-Vizarra E."xsd:string |
| http://purl.uniprot.org/citations/18499082 | http://purl.uniprot.org/core/author | "Fernandez-Vizarra E."xsd:string |
| http://purl.uniprot.org/citations/18499082 | http://purl.uniprot.org/core/author | "Alshahwan S."xsd:string |
| http://purl.uniprot.org/citations/18499082 | http://purl.uniprot.org/core/author | "Alshahwan S."xsd:string |
| http://purl.uniprot.org/citations/18499082 | http://purl.uniprot.org/core/author | "Mereghetti P."xsd:string |
| http://purl.uniprot.org/citations/18499082 | http://purl.uniprot.org/core/author | "Mereghetti P."xsd:string |