| http://purl.uniprot.org/citations/9463323 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9463323 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9463323 | http://www.w3.org/2000/01/rdf-schema#comment | "We report the cDNA cloning, chromosomal localization, and a mutation in the human nuclear gene encoding the 18-kD (AQDQ) subunit of the mitochondrial respiratory chain complex I. The cDNA has an open reading frame of 175 amino acids and codes for a protein with a molecular mass of 23.2 kD. Its gene was mapped to chromosome 5. A homozygous 5-bp duplication, destroying a consensus phosphorylation site, in the 18-kD cDNA was found in a complex I-deficient patient. The patient showed normal muscle morphology and a remarkably nonspecific fatal progressive phenotype without increased lactate concentrations in body fluids. The child's parents were heterozygous for the mutation. In 19 other complex I-deficient patients, no mutations were found in the 18-kD gene."xsd:string |
| http://purl.uniprot.org/citations/9463323 | http://purl.org/dc/terms/identifier | "doi:10.1086/301716"xsd:string |
| http://purl.uniprot.org/citations/9463323 | http://purl.org/dc/terms/identifier | "doi:10.1086/301716"xsd:string |
| http://purl.uniprot.org/citations/9463323 | http://purl.uniprot.org/core/author | "Elpeleg O."xsd:string |
| http://purl.uniprot.org/citations/9463323 | http://purl.uniprot.org/core/author | "Elpeleg O."xsd:string |
| http://purl.uniprot.org/citations/9463323 | http://purl.uniprot.org/core/author | "Smeitink J."xsd:string |
| http://purl.uniprot.org/citations/9463323 | http://purl.uniprot.org/core/author | "Smeitink J."xsd:string |
| http://purl.uniprot.org/citations/9463323 | http://purl.uniprot.org/core/author | "van den Heuvel L."xsd:string |
| http://purl.uniprot.org/citations/9463323 | http://purl.uniprot.org/core/author | "van den Heuvel L."xsd:string |
| http://purl.uniprot.org/citations/9463323 | http://purl.uniprot.org/core/author | "Ruitenbeek W."xsd:string |
| http://purl.uniprot.org/citations/9463323 | http://purl.uniprot.org/core/author | "Ruitenbeek W."xsd:string |
| http://purl.uniprot.org/citations/9463323 | http://purl.uniprot.org/core/author | "de Bruijn D."xsd:string |
| http://purl.uniprot.org/citations/9463323 | http://purl.uniprot.org/core/author | "de Bruijn D."xsd:string |
| http://purl.uniprot.org/citations/9463323 | http://purl.uniprot.org/core/author | "Smeets R."xsd:string |
| http://purl.uniprot.org/citations/9463323 | http://purl.uniprot.org/core/author | "Smeets R."xsd:string |
| http://purl.uniprot.org/citations/9463323 | http://purl.uniprot.org/core/author | "Trijbels F."xsd:string |
| http://purl.uniprot.org/citations/9463323 | http://purl.uniprot.org/core/author | "Trijbels F."xsd:string |
| http://purl.uniprot.org/citations/9463323 | http://purl.uniprot.org/core/author | "Mariman E."xsd:string |
| http://purl.uniprot.org/citations/9463323 | http://purl.uniprot.org/core/author | "Mariman E."xsd:string |
| http://purl.uniprot.org/citations/9463323 | http://purl.uniprot.org/core/author | "Gelman-Kohan Z."xsd:string |
| http://purl.uniprot.org/citations/9463323 | http://purl.uniprot.org/core/author | "Gelman-Kohan Z."xsd:string |
| http://purl.uniprot.org/citations/9463323 | http://purl.uniprot.org/core/author | "Loeffen J."xsd:string |
| http://purl.uniprot.org/citations/9463323 | http://purl.uniprot.org/core/author | "Loeffen J."xsd:string |