Statements in which the resource exists.
SubjectPredicateObjectContext
pubmed-article:1978553rdf:typepubmed:Citationlld:pubmed
pubmed-article:1978553lifeskim:mentionsumls-concept:C0031485lld:lifeskim
pubmed-article:1978553lifeskim:mentionsumls-concept:C0337812lld:lifeskim
pubmed-article:1978553lifeskim:mentionsumls-concept:C0017337lld:lifeskim
pubmed-article:1978553lifeskim:mentionsumls-concept:C0596988lld:lifeskim
pubmed-article:1978553lifeskim:mentionsumls-concept:C0018591lld:lifeskim
pubmed-article:1978553lifeskim:mentionsumls-concept:C1549081lld:lifeskim
pubmed-article:1978553lifeskim:mentionsumls-concept:C1692758lld:lifeskim
pubmed-article:1978553pubmed:issue6lld:pubmed
pubmed-article:1978553pubmed:dateCreated1990-12-26lld:pubmed
pubmed-article:1978553pubmed:abstractTextRFLPs in the phenylalanine hydroxylase (PAH) gene locus were determined in 47 Norwegian nuclear families that had at least one child with phenylketonuria (PKU). The PKU haplotype distribution differed somewhat from that of other European populations. Mutant haplotype 7 is relatively rare in other populations but constituted 20% of all mutant haplotypes in Norway. In 14 of the 17 mutant haplotypes 7, a previously unreported deletion of the BamHI restriction site in exon 7 of the PAH gene was observed. The abrogation of the BamHI site was shown to be due to a G-to-T transversion, changing Gly 272 to Ter 272 in exon 7 of the gene, thus directly identifying the PKU mutation. Unlike the families of the other PKU patients, the families with this mutation clustered along the southeastern coast of Norway, suggesting a founder effect for this mutation.lld:pubmed
pubmed-article:1978553pubmed:commentsCorrectionshttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:1978553pubmed:commentsCorrectionshttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:1978553pubmed:commentsCorrectionshttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:1978553pubmed:commentsCorrectionshttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:1978553pubmed:commentsCorrectionshttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:1978553pubmed:commentsCorrectionshttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:1978553pubmed:commentsCorrectionshttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:1978553pubmed:commentsCorrectionshttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:1978553pubmed:commentsCorrectionshttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:1978553pubmed:commentsCorrectionshttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:1978553pubmed:commentsCorrectionshttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:1978553pubmed:commentsCorrectionshttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:1978553pubmed:commentsCorrectionshttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:1978553pubmed:commentsCorrectionshttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:1978553pubmed:commentsCorrectionshttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:1978553pubmed:commentsCorrectionshttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:1978553pubmed:commentsCorrectionshttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:1978553pubmed:commentsCorrectionshttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:1978553pubmed:commentsCorrectionshttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:1978553pubmed:languageenglld:pubmed
pubmed-article:1978553pubmed:journalhttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:1978553pubmed:citationSubsetIMlld:pubmed
pubmed-article:1978553pubmed:chemicalhttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:1978553pubmed:statusMEDLINElld:pubmed
pubmed-article:1978553pubmed:monthDeclld:pubmed
pubmed-article:1978553pubmed:issn0002-9297lld:pubmed
pubmed-article:1978553pubmed:authorpubmed-author:ApoldJJlld:pubmed
pubmed-article:1978553pubmed:authorpubmed-author:BakkerEElld:pubmed
pubmed-article:1978553pubmed:authorpubmed-author:FredriksenAAlld:pubmed
pubmed-article:1978553pubmed:authorpubmed-author:BomanHHlld:pubmed
pubmed-article:1978553pubmed:authorpubmed-author:EikenH GHGlld:pubmed
pubmed-article:1978553pubmed:authorpubmed-author:LorensJ BJBlld:pubmed
pubmed-article:1978553pubmed:authorpubmed-author:OdlandEElld:pubmed
pubmed-article:1978553pubmed:issnTypePrintlld:pubmed
pubmed-article:1978553pubmed:volume47lld:pubmed
pubmed-article:1978553pubmed:geneSymbolPAHlld:pubmed
pubmed-article:1978553pubmed:ownerNLMlld:pubmed
pubmed-article:1978553pubmed:authorsCompleteYlld:pubmed
pubmed-article:1978553pubmed:pagination1002-7lld:pubmed
pubmed-article:1978553pubmed:dateRevised2009-11-18lld:pubmed
pubmed-article:1978553pubmed:meshHeadingpubmed-meshheading:1978553-...lld:pubmed
pubmed-article:1978553pubmed:meshHeadingpubmed-meshheading:1978553-...lld:pubmed
pubmed-article:1978553pubmed:meshHeadingpubmed-meshheading:1978553-...lld:pubmed
pubmed-article:1978553pubmed:meshHeadingpubmed-meshheading:1978553-...lld:pubmed
pubmed-article:1978553pubmed:meshHeadingpubmed-meshheading:1978553-...lld:pubmed
pubmed-article:1978553pubmed:meshHeadingpubmed-meshheading:1978553-...lld:pubmed
pubmed-article:1978553pubmed:meshHeadingpubmed-meshheading:1978553-...lld:pubmed
pubmed-article:1978553pubmed:meshHeadingpubmed-meshheading:1978553-...lld:pubmed
pubmed-article:1978553pubmed:meshHeadingpubmed-meshheading:1978553-...lld:pubmed
pubmed-article:1978553pubmed:meshHeadingpubmed-meshheading:1978553-...lld:pubmed
pubmed-article:1978553pubmed:meshHeadingpubmed-meshheading:1978553-...lld:pubmed
pubmed-article:1978553pubmed:meshHeadingpubmed-meshheading:1978553-...lld:pubmed
pubmed-article:1978553pubmed:meshHeadingpubmed-meshheading:1978553-...lld:pubmed
pubmed-article:1978553pubmed:meshHeadingpubmed-meshheading:1978553-...lld:pubmed
pubmed-article:1978553pubmed:meshHeadingpubmed-meshheading:1978553-...lld:pubmed
pubmed-article:1978553pubmed:meshHeadingpubmed-meshheading:1978553-...lld:pubmed
pubmed-article:1978553pubmed:meshHeadingpubmed-meshheading:1978553-...lld:pubmed
pubmed-article:1978553pubmed:meshHeadingpubmed-meshheading:1978553-...lld:pubmed
pubmed-article:1978553pubmed:meshHeadingpubmed-meshheading:1978553-...lld:pubmed
pubmed-article:1978553pubmed:meshHeadingpubmed-meshheading:1978553-...lld:pubmed
pubmed-article:1978553pubmed:meshHeadingpubmed-meshheading:1978553-...lld:pubmed
pubmed-article:1978553pubmed:year1990lld:pubmed
pubmed-article:1978553pubmed:articleTitleA termination mutant prevalent in Norwegian haplotype 7 phenylketonuria genes.lld:pubmed
pubmed-article:1978553pubmed:affiliationDepartment of Medical Genetics, University of Bergen, Norway.lld:pubmed
pubmed-article:1978553pubmed:publicationTypeJournal Articlelld:pubmed
pubmed-article:1978553pubmed:publicationTypeResearch Support, Non-U.S. Gov'tlld:pubmed
entrez-gene:5053entrezgene:pubmedpubmed-article:1978553lld:entrezgene
http://linkedlifedata.com/r...pubmed:referesTopubmed-article:1978553lld:pubmed
http://linkedlifedata.com/r...pubmed:referesTopubmed-article:1978553lld:pubmed
http://linkedlifedata.com/r...pubmed:referesTopubmed-article:1978553lld:pubmed
http://linkedlifedata.com/r...pubmed:referesTopubmed-article:1978553lld:pubmed