| http://purl.uniprot.org/citations/1323207 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/1323207 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/1323207 | http://www.w3.org/2000/01/rdf-schema#comment | "The molecular lesions in two patients exhibiting classical clinical manifestations of MELAS (mitochondrial encephalopathy, lactic acidosis, and strokelike episodes) syndrome have been investigated. A recently reported disease-related A----G base substitution at nt 3243 of the mtDNA, in the DHU loop of tRNA(Leu), was detected by restriction-enzyme analysis of the relevant PCR-amplified segment of the mtDNA of one patient but was not observed, by either restriction-enzyme analysis or nucleotide sequencing, in the other. To define the molecular lesion in the patient who does not have the A----G base substitution at nt 3243, the total mitochondrial genome of the patient has been sequenced. An A----G base substitution at nt 11084, leading to a Thr-to-Ala amino acid replacement in the ND4 subunit of the respiratory complex I, is suggested to be a disease-related mutation."xsd:string |
| http://purl.uniprot.org/citations/1323207 | http://purl.uniprot.org/core/author | "Marzuki S."xsd:string |
| http://purl.uniprot.org/citations/1323207 | http://purl.uniprot.org/core/author | "Marzuki S."xsd:string |
| http://purl.uniprot.org/citations/1323207 | http://purl.uniprot.org/core/author | "Noer A.S."xsd:string |
| http://purl.uniprot.org/citations/1323207 | http://purl.uniprot.org/core/author | "Noer A.S."xsd:string |
| http://purl.uniprot.org/citations/1323207 | http://purl.uniprot.org/core/author | "Byrne E."xsd:string |
| http://purl.uniprot.org/citations/1323207 | http://purl.uniprot.org/core/author | "Byrne E."xsd:string |
| http://purl.uniprot.org/citations/1323207 | http://purl.uniprot.org/core/author | "Kapsa R."xsd:string |
| http://purl.uniprot.org/citations/1323207 | http://purl.uniprot.org/core/author | "Kapsa R."xsd:string |
| http://purl.uniprot.org/citations/1323207 | http://purl.uniprot.org/core/author | "Lertrit P."xsd:string |
| http://purl.uniprot.org/citations/1323207 | http://purl.uniprot.org/core/author | "Lertrit P."xsd:string |
| http://purl.uniprot.org/citations/1323207 | http://purl.uniprot.org/core/author | "Thyagarajan D."xsd:string |
| http://purl.uniprot.org/citations/1323207 | http://purl.uniprot.org/core/author | "Thyagarajan D."xsd:string |
| http://purl.uniprot.org/citations/1323207 | http://purl.uniprot.org/core/author | "Dennett X."xsd:string |
| http://purl.uniprot.org/citations/1323207 | http://purl.uniprot.org/core/author | "Dennett X."xsd:string |
| http://purl.uniprot.org/citations/1323207 | http://purl.uniprot.org/core/author | "Jean-Francois M.J.B."xsd:string |
| http://purl.uniprot.org/citations/1323207 | http://purl.uniprot.org/core/author | "Jean-Francois M.J.B."xsd:string |
| http://purl.uniprot.org/citations/1323207 | http://purl.uniprot.org/core/author | "Lethlean K."xsd:string |
| http://purl.uniprot.org/citations/1323207 | http://purl.uniprot.org/core/author | "Lethlean K."xsd:string |
| http://purl.uniprot.org/citations/1323207 | http://purl.uniprot.org/core/date | "1992"xsd:gYear |
| http://purl.uniprot.org/citations/1323207 | http://purl.uniprot.org/core/date | "1992"xsd:gYear |
| http://purl.uniprot.org/citations/1323207 | http://purl.uniprot.org/core/name | "Am. J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/1323207 | http://purl.uniprot.org/core/name | "Am. J. Hum. Genet."xsd:string |