| http://purl.uniprot.org/citations/16240359 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16240359 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16240359 | http://www.w3.org/2000/01/rdf-schema#comment | "Leber's hereditary optic neuropathy (LHON) causes central vision loss from bilateral optic neuropathy. Although 13 mitochondrial DNA (mtDNA) mutations are strongly associated with LHON, only three account for roughly 90% of cases and thus are found in multiple independent LHON families. The remaining LHON mutations are rare. Here, we describe the clinical and genetic characterization of a new LHON mtDNA mutation. The 12848T mutation alters a highly conserved amino acid in the ND5 complex I gene, is not found in controls, and is heteroplasmic. Despite ND5 being the largest of the mtDNA complex I genes, ND5 mutations are quite rare in LHON."xsd:string |
| http://purl.uniprot.org/citations/16240359 | http://purl.org/dc/terms/identifier | "doi:10.1002/ana.20669"xsd:string |
| http://purl.uniprot.org/citations/16240359 | http://purl.org/dc/terms/identifier | "doi:10.1002/ana.20669"xsd:string |
| http://purl.uniprot.org/citations/16240359 | http://purl.uniprot.org/core/author | "Biousse V."xsd:string |
| http://purl.uniprot.org/citations/16240359 | http://purl.uniprot.org/core/author | "Biousse V."xsd:string |
| http://purl.uniprot.org/citations/16240359 | http://purl.uniprot.org/core/author | "Newman N.J."xsd:string |
| http://purl.uniprot.org/citations/16240359 | http://purl.uniprot.org/core/author | "Newman N.J."xsd:string |
| http://purl.uniprot.org/citations/16240359 | http://purl.uniprot.org/core/author | "Brown M.D."xsd:string |
| http://purl.uniprot.org/citations/16240359 | http://purl.uniprot.org/core/author | "Brown M.D."xsd:string |
| http://purl.uniprot.org/citations/16240359 | http://purl.uniprot.org/core/author | "Mayorov V."xsd:string |
| http://purl.uniprot.org/citations/16240359 | http://purl.uniprot.org/core/author | "Mayorov V."xsd:string |
| http://purl.uniprot.org/citations/16240359 | http://purl.uniprot.org/core/date | "2005"xsd:gYear |
| http://purl.uniprot.org/citations/16240359 | http://purl.uniprot.org/core/date | "2005"xsd:gYear |
| http://purl.uniprot.org/citations/16240359 | http://purl.uniprot.org/core/name | "Ann. Neurol."xsd:string |
| http://purl.uniprot.org/citations/16240359 | http://purl.uniprot.org/core/name | "Ann. Neurol."xsd:string |
| http://purl.uniprot.org/citations/16240359 | http://purl.uniprot.org/core/pages | "807-811"xsd:string |
| http://purl.uniprot.org/citations/16240359 | http://purl.uniprot.org/core/pages | "807-811"xsd:string |
| http://purl.uniprot.org/citations/16240359 | http://purl.uniprot.org/core/title | "The role of the ND5 gene in LHON: characterization of a new, heteroplasmic LHON mutation."xsd:string |
| http://purl.uniprot.org/citations/16240359 | http://purl.uniprot.org/core/title | "The role of the ND5 gene in LHON: characterization of a new, heteroplasmic LHON mutation."xsd:string |
| http://purl.uniprot.org/citations/16240359 | http://purl.uniprot.org/core/volume | "58"xsd:string |
| http://purl.uniprot.org/citations/16240359 | http://purl.uniprot.org/core/volume | "58"xsd:string |
| http://purl.uniprot.org/citations/16240359 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/16240359 |
| http://purl.uniprot.org/citations/16240359 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/16240359 |