Linked Life Data

2394825

Source:http://linkedlifedata.com/resource/pubmed/id/2394825

Statements in which the resource exists.
SubjectPredicateObjectContext
pubmed-article:2394825rdf:typepubmed:Citationlld:pubmed
pubmed-article:2394825lifeskim:mentionsumls-concept:C0015127lld:lifeskim
pubmed-article:2394825lifeskim:mentionsumls-concept:C0033684lld:lifeskim
pubmed-article:2394825lifeskim:mentionsumls-concept:C0026882lld:lifeskim
pubmed-article:2394825lifeskim:mentionsumls-concept:C0050688lld:lifeskim
pubmed-article:2394825lifeskim:mentionsumls-concept:C1314792lld:lifeskim
pubmed-article:2394825lifeskim:mentionsumls-concept:C0733755lld:lifeskim
pubmed-article:2394825lifeskim:mentionsumls-concept:C1853126lld:lifeskim
pubmed-article:2394825lifeskim:mentionsumls-concept:C0011155lld:lifeskim
pubmed-article:2394825lifeskim:mentionsumls-concept:C1705165lld:lifeskim
pubmed-article:2394825lifeskim:mentionsumls-concept:C0220839lld:lifeskim
pubmed-article:2394825lifeskim:mentionsumls-concept:C1524075lld:lifeskim
pubmed-article:2394825lifeskim:mentionsumls-concept:C0205171lld:lifeskim
pubmed-article:2394825lifeskim:mentionsumls-concept:C0439536lld:lifeskim
pubmed-article:2394825lifeskim:mentionsumls-concept:C1706204lld:lifeskim
pubmed-article:2394825lifeskim:mentionsumls-concept:C2700061lld:lifeskim
pubmed-article:2394825lifeskim:mentionsumls-concept:C1555721lld:lifeskim
pubmed-article:2394825lifeskim:mentionsumls-concept:C0337112lld:lifeskim
pubmed-article:2394825pubmed:issue3lld:pubmed
pubmed-article:2394825pubmed:dateCreated1990-10-11lld:pubmed
pubmed-article:2394825pubmed:abstractTextWe sequenced polymerase chain reaction (PCR)-amplified variant medium chain acyl-CoA dehydrogenase (MCAD) cDNAs in cultured fibroblasts from three MCAD-deficient patients. In all three patients, an A to G transition was identified at position 985 of the coding region. Since no appropriate restriction sites for detecting this point mutation were found, we devised a PCR method that amplifies an 87-bp fragment from position 955. In the 5' primer encompassing positions 955 to 984, A-981 was artificially substituted with C. With the presence of C-981 and G-985, an Nco I restriction site is introduced in the mutant copies. When cDNA or genomic DNA from fibroblasts of nine MCAD-deficient patients were tested with this method, the copies from all of them completely cleaved into two shorter fragments by Nco I, indicating their homozygosity for the A----G-985 transition. In contrast, the copies from all eight controls remained intact. Thus, this A----G-985 transition is the single prevalent mutation causing MCAD deficiency, a highly unusual feature for any genetic disorder. The PCR/Nco I digestion method is suitable for the diagnosis of MCAD deficiency.lld:pubmed
pubmed-article:2394825pubmed:granthttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:2394825pubmed:granthttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:2394825pubmed:commentsCorrectionshttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:2394825pubmed:commentsCorrectionshttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:2394825pubmed:commentsCorrectionshttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:2394825pubmed:commentsCorrectionshttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:2394825pubmed:commentsCorrectionshttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:2394825pubmed:commentsCorrectionshttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:2394825pubmed:commentsCorrectionshttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:2394825pubmed:commentsCorrectionshttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:2394825pubmed:commentsCorrectionshttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:2394825pubmed:commentsCorrectionshttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:2394825pubmed:commentsCorrectionshttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:2394825pubmed:commentsCorrectionshttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:2394825pubmed:commentsCorrectionshttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:2394825pubmed:commentsCorrectionshttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:2394825pubmed:commentsCorrectionshttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:2394825pubmed:commentsCorrectionshttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:2394825pubmed:commentsCorrectionshttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:2394825pubmed:languageenglld:pubmed
pubmed-article:2394825pubmed:journalhttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:2394825pubmed:citationSubsetAIMlld:pubmed
pubmed-article:2394825pubmed:chemicalhttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:2394825pubmed:chemicalhttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:2394825pubmed:chemicalhttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:2394825pubmed:chemicalhttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:2394825pubmed:chemicalhttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:2394825pubmed:statusMEDLINElld:pubmed
pubmed-article:2394825pubmed:monthSeplld:pubmed
pubmed-article:2394825pubmed:issn0021-9738lld:pubmed
pubmed-article:2394825pubmed:authorpubmed-author:TanakaKKlld:pubmed
pubmed-article:2394825pubmed:authorpubmed-author:CoatesP MPMlld:pubmed
pubmed-article:2394825pubmed:authorpubmed-author:YokotaIIlld:pubmed
pubmed-article:2394825pubmed:authorpubmed-author:IndoYYlld:pubmed
pubmed-article:2394825pubmed:issnTypePrintlld:pubmed
pubmed-article:2394825pubmed:volume86lld:pubmed
pubmed-article:2394825pubmed:ownerNLMlld:pubmed
pubmed-article:2394825pubmed:authorsCompleteYlld:pubmed
pubmed-article:2394825pubmed:pagination1000-3lld:pubmed
pubmed-article:2394825pubmed:dateRevised2009-11-18lld:pubmed
pubmed-article:2394825pubmed:meshHeadingpubmed-meshheading:2394825-...lld:pubmed
pubmed-article:2394825pubmed:meshHeadingpubmed-meshheading:2394825-...lld:pubmed
pubmed-article:2394825pubmed:meshHeadingpubmed-meshheading:2394825-...lld:pubmed
pubmed-article:2394825pubmed:meshHeadingpubmed-meshheading:2394825-...lld:pubmed
pubmed-article:2394825pubmed:meshHeadingpubmed-meshheading:2394825-...lld:pubmed
pubmed-article:2394825pubmed:meshHeadingpubmed-meshheading:2394825-...lld:pubmed
pubmed-article:2394825pubmed:meshHeadingpubmed-meshheading:2394825-...lld:pubmed
pubmed-article:2394825pubmed:meshHeadingpubmed-meshheading:2394825-...lld:pubmed
pubmed-article:2394825pubmed:meshHeadingpubmed-meshheading:2394825-...lld:pubmed
pubmed-article:2394825pubmed:year1990lld:pubmed
pubmed-article:2394825pubmed:articleTitleMolecular basis of medium chain acyl-coenzyme A dehydrogenase deficiency. An A to G transition at position 985 that causes a lysine-304 to glutamate substitution in the mature protein is the single prevalent mutation.lld:pubmed
pubmed-article:2394825pubmed:affiliationDepartment of Human Genetics, Yale University School of Medicine, New Haven, Connecticut 06510.lld:pubmed
pubmed-article:2394825pubmed:publicationTypeJournal Articlelld:pubmed
pubmed-article:2394825pubmed:publicationTypeResearch Support, U.S. Gov't, P.H.S.lld:pubmed
entrez-gene:34entrezgene:pubmedpubmed-article:2394825lld:entrezgene
http://linkedlifedata.com/r...pubmed:referesTopubmed-article:2394825lld:pubmed
http://linkedlifedata.com/r...pubmed:referesTopubmed-article:2394825lld:pubmed
http://linkedlifedata.com/r...pubmed:referesTopubmed-article:2394825lld:pubmed
http://linkedlifedata.com/r...pubmed:referesTopubmed-article:2394825lld:pubmed
http://linkedlifedata.com/r...pubmed:referesTopubmed-article:2394825lld:pubmed
http://linkedlifedata.com/r...pubmed:referesTopubmed-article:2394825lld:pubmed
http://linkedlifedata.com/r...pubmed:referesTopubmed-article:2394825lld:pubmed
http://linkedlifedata.com/r...pubmed:referesTopubmed-article:2394825lld:pubmed
http://linkedlifedata.com/r...pubmed:referesTopubmed-article:2394825lld:pubmed
http://linkedlifedata.com/r...pubmed:referesTopubmed-article:2394825lld:pubmed
http://linkedlifedata.com/r...pubmed:referesTopubmed-article:2394825lld:pubmed
http://linkedlifedata.com/r...pubmed:referesTopubmed-article:2394825lld:pubmed
http://linkedlifedata.com/r...pubmed:referesTopubmed-article:2394825lld:pubmed
http://linkedlifedata.com/r...pubmed:referesTopubmed-article:2394825lld:pubmed
http://linkedlifedata.com/r...pubmed:referesTopubmed-article:2394825lld:pubmed
http://linkedlifedata.com/r...pubmed:referesTopubmed-article:2394825lld:pubmed
http://linkedlifedata.com/r...pubmed:referesTopubmed-article:2394825lld:pubmed