pubmed-article:1323207 | rdf:type | pubmed:Citation | lld:pubmed |
pubmed-article:1323207 | lifeskim:mentions | umls-concept:C1852373 | lld:lifeskim |
pubmed-article:1323207 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
pubmed-article:1323207 | lifeskim:mentions | umls-concept:C2363240 | lld:lifeskim |
pubmed-article:1323207 | lifeskim:mentions | umls-concept:C0001125 | lld:lifeskim |
pubmed-article:1323207 | lifeskim:mentions | umls-concept:C0162671 | lld:lifeskim |
pubmed-article:1323207 | lifeskim:mentions | umls-concept:C0001721 | lld:lifeskim |
pubmed-article:1323207 | lifeskim:mentions | umls-concept:C0039082 | lld:lifeskim |
pubmed-article:1323207 | lifeskim:mentions | umls-concept:C0332189 | lld:lifeskim |
pubmed-article:1323207 | lifeskim:mentions | umls-concept:C1537992 | lld:lifeskim |
pubmed-article:1323207 | lifeskim:mentions | umls-concept:C1711351 | lld:lifeskim |
pubmed-article:1323207 | pubmed:issue | 3 | lld:pubmed |
pubmed-article:1323207 | pubmed:dateCreated | 1992-9-10 | lld:pubmed |
pubmed-article:1323207 | pubmed:abstractText | 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. | lld:pubmed |
pubmed-article:1323207 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1323207 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1323207 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1323207 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1323207 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1323207 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1323207 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1323207 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1323207 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1323207 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1323207 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1323207 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1323207 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1323207 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1323207 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1323207 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1323207 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1323207 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1323207 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1323207 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1323207 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1323207 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1323207 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1323207 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1323207 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1323207 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1323207 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1323207 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1323207 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1323207 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1323207 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1323207 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1323207 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1323207 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1323207 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1323207 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1323207 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1323207 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1323207 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1323207 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1323207 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1323207 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1323207 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1323207 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1323207 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1323207 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1323207 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1323207 | pubmed:language | eng | lld:pubmed |
pubmed-article:1323207 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1323207 | pubmed:citationSubset | IM | lld:pubmed |
pubmed-article:1323207 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1323207 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1323207 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1323207 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1323207 | pubmed:status | MEDLINE | lld:pubmed |
pubmed-article:1323207 | pubmed:month | Sep | lld:pubmed |
pubmed-article:1323207 | pubmed:issn | 0002-9297 | lld:pubmed |
pubmed-article:1323207 | pubmed:author | pubmed-author:MarzukiSS | lld:pubmed |
pubmed-article:1323207 | pubmed:author | pubmed-author:ByrneEE | lld:pubmed |
pubmed-article:1323207 | pubmed:author | pubmed-author:DennettXX | lld:pubmed |
pubmed-article:1323207 | pubmed:author | pubmed-author:LethleanKK | lld:pubmed |
pubmed-article:1323207 | pubmed:author | pubmed-author:NoerA SAS | lld:pubmed |
pubmed-article:1323207 | pubmed:author | pubmed-author:ThyagarajanDD | lld:pubmed |
pubmed-article:1323207 | pubmed:author | pubmed-author:LertritPP | lld:pubmed |
pubmed-article:1323207 | pubmed:author | pubmed-author:KapsaRR | lld:pubmed |
pubmed-article:1323207 | pubmed:author | pubmed-author:Jean-Francois... | lld:pubmed |
pubmed-article:1323207 | pubmed:issnType | Print | lld:pubmed |
pubmed-article:1323207 | pubmed:volume | 51 | lld:pubmed |
pubmed-article:1323207 | pubmed:geneSymbol | ND4 | lld:pubmed |
pubmed-article:1323207 | pubmed:owner | NLM | lld:pubmed |
pubmed-article:1323207 | pubmed:authorsComplete | Y | lld:pubmed |
pubmed-article:1323207 | pubmed:pagination | 457-68 | lld:pubmed |
pubmed-article:1323207 | pubmed:dateRevised | 2010-9-7 | lld:pubmed |
pubmed-article:1323207 | pubmed:meshHeading | pubmed-meshheading:1323207-... | lld:pubmed |
pubmed-article:1323207 | pubmed:meshHeading | pubmed-meshheading:1323207-... | lld:pubmed |
pubmed-article:1323207 | pubmed:meshHeading | pubmed-meshheading:1323207-... | lld:pubmed |
pubmed-article:1323207 | pubmed:meshHeading | pubmed-meshheading:1323207-... | lld:pubmed |
pubmed-article:1323207 | pubmed:meshHeading | pubmed-meshheading:1323207-... | lld:pubmed |
pubmed-article:1323207 | pubmed:meshHeading | pubmed-meshheading:1323207-... | lld:pubmed |
pubmed-article:1323207 | pubmed:meshHeading | pubmed-meshheading:1323207-... | lld:pubmed |
pubmed-article:1323207 | pubmed:meshHeading | pubmed-meshheading:1323207-... | lld:pubmed |
pubmed-article:1323207 | pubmed:meshHeading | pubmed-meshheading:1323207-... | lld:pubmed |
pubmed-article:1323207 | pubmed:meshHeading | pubmed-meshheading:1323207-... | lld:pubmed |
pubmed-article:1323207 | pubmed:meshHeading | pubmed-meshheading:1323207-... | lld:pubmed |
pubmed-article:1323207 | pubmed:meshHeading | pubmed-meshheading:1323207-... | lld:pubmed |
pubmed-article:1323207 | pubmed:meshHeading | pubmed-meshheading:1323207-... | lld:pubmed |