| http://purl.uniprot.org/citations/12796552 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12796552 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12796552 | http://www.w3.org/2000/01/rdf-schema#comment | "A 13084 A->T missense mutation in the mitochondrial ND5 gene was identified in a 16-year-old boy affected with a progressive neurodegenerative disorder combining features of Leigh and MELAS (mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes) syndromes. Muscle biopsy analysis revealed partial complex I deficiency. The mutation presented a variable degree of heteroplasmy in the patient's tissues. This finding underlines the contribution of mtDNA-encoded complex I subunits in the etiology of complex I deficiency associated with encephalopathy."xsd:string |
| http://purl.uniprot.org/citations/12796552 | http://purl.org/dc/terms/identifier | "doi:10.1212/01.wnl.0000066048.72780.69"xsd:string |
| http://purl.uniprot.org/citations/12796552 | http://purl.org/dc/terms/identifier | "doi:10.1212/01.wnl.0000066048.72780.69"xsd:string |
| http://purl.uniprot.org/citations/12796552 | http://purl.uniprot.org/core/author | "Galbiati S."xsd:string |
| http://purl.uniprot.org/citations/12796552 | http://purl.uniprot.org/core/author | "Galbiati S."xsd:string |
| http://purl.uniprot.org/citations/12796552 | http://purl.uniprot.org/core/author | "Crimi M."xsd:string |
| http://purl.uniprot.org/citations/12796552 | http://purl.uniprot.org/core/author | "Crimi M."xsd:string |
| http://purl.uniprot.org/citations/12796552 | http://purl.uniprot.org/core/author | "Lamantea E."xsd:string |
| http://purl.uniprot.org/citations/12796552 | http://purl.uniprot.org/core/author | "Lamantea E."xsd:string |
| http://purl.uniprot.org/citations/12796552 | http://purl.uniprot.org/core/author | "Zeviani M."xsd:string |
| http://purl.uniprot.org/citations/12796552 | http://purl.uniprot.org/core/author | "Zeviani M."xsd:string |
| http://purl.uniprot.org/citations/12796552 | http://purl.uniprot.org/core/author | "Bordoni A."xsd:string |
| http://purl.uniprot.org/citations/12796552 | http://purl.uniprot.org/core/author | "Bordoni A."xsd:string |
| http://purl.uniprot.org/citations/12796552 | http://purl.uniprot.org/core/author | "Comi G.P."xsd:string |
| http://purl.uniprot.org/citations/12796552 | http://purl.uniprot.org/core/author | "Comi G.P."xsd:string |
| http://purl.uniprot.org/citations/12796552 | http://purl.uniprot.org/core/author | "Moggio M."xsd:string |
| http://purl.uniprot.org/citations/12796552 | http://purl.uniprot.org/core/author | "Moggio M."xsd:string |
| http://purl.uniprot.org/citations/12796552 | http://purl.uniprot.org/core/author | "Scarlato G."xsd:string |
| http://purl.uniprot.org/citations/12796552 | http://purl.uniprot.org/core/author | "Scarlato G."xsd:string |
| http://purl.uniprot.org/citations/12796552 | http://purl.uniprot.org/core/author | "Sciacco M."xsd:string |
| http://purl.uniprot.org/citations/12796552 | http://purl.uniprot.org/core/author | "Sciacco M."xsd:string |
| http://purl.uniprot.org/citations/12796552 | http://purl.uniprot.org/core/author | "Moroni I."xsd:string |
| http://purl.uniprot.org/citations/12796552 | http://purl.uniprot.org/core/author | "Moroni I."xsd:string |