| pubmed-article:2597162 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:2597162 | lifeskim:mentions | umls-concept:C0003595 | lld:lifeskim |
| pubmed-article:2597162 | lifeskim:mentions | umls-concept:C1274040 | lld:lifeskim |
| pubmed-article:2597162 | lifeskim:mentions | umls-concept:C0017261 | lld:lifeskim |
| pubmed-article:2597162 | lifeskim:mentions | umls-concept:C0002085 | lld:lifeskim |
| pubmed-article:2597162 | lifeskim:mentions | umls-concept:C0015295 | lld:lifeskim |
| pubmed-article:2597162 | lifeskim:mentions | umls-concept:C0728938 | lld:lifeskim |
| pubmed-article:2597162 | pubmed:issue | 2 | lld:pubmed |
| pubmed-article:2597162 | pubmed:dateCreated | 1990-1-24 | lld:pubmed |
| pubmed-article:2597162 | pubmed:abstractText | The apolipoprotein E3-Leiden variant has been shown to be associated with familial dysbetalipoproteinemia (FD) in a dominant manner (Havekes et al., Hum Genet 1986;73:157-163). Applying the polymerase chain reaction technique, we have cloned and sequenced relevant parts of both APOE alleles of the original proband. In exon 4 of the E*3-Leiden allele a partial gene duplication encompassing 21 nucleotides was found, leading to a tandem repeat of the codons 120-126 or 121-127. Using an E3-Leiden mutation specific oligonucleotide probe, the same mutation was found in two additional independently ascertained FD patients with an E3E3 phenotype based on isoelectric focusing. The E*3-Leiden mutation will be useful in the elucidation of the etiology of dominantly inherited forms of FD. | lld:pubmed |
| pubmed-article:2597162 | pubmed:language | eng | lld:pubmed |
| pubmed-article:2597162 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:2597162 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:2597162 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:2597162 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:2597162 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:2597162 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:2597162 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:2597162 | pubmed:month | Dec | lld:pubmed |
| pubmed-article:2597162 | pubmed:issn | 0006-291X | lld:pubmed |
| pubmed-article:2597162 | pubmed:author | pubmed-author:FrantsR RRR | lld:pubmed |
| pubmed-article:2597162 | pubmed:author | pubmed-author:StalenhoefA... | lld:pubmed |
| pubmed-article:2597162 | pubmed:author | pubmed-author:Gevers... | lld:pubmed |
| pubmed-article:2597162 | pubmed:author | pubmed-author:HavekesL MLM | lld:pubmed |
| pubmed-article:2597162 | pubmed:author | pubmed-author:de KnijffPP | lld:pubmed |
| pubmed-article:2597162 | pubmed:author | pubmed-author:van den... | lld:pubmed |
| pubmed-article:2597162 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:2597162 | pubmed:day | 15 | lld:pubmed |
| pubmed-article:2597162 | pubmed:volume | 165 | lld:pubmed |
| pubmed-article:2597162 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:2597162 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:2597162 | pubmed:pagination | 851-7 | lld:pubmed |
| pubmed-article:2597162 | pubmed:dateRevised | 2008-11-21 | lld:pubmed |
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| pubmed-article:2597162 | pubmed:meshHeading | pubmed-meshheading:2597162-... | lld:pubmed |
| pubmed-article:2597162 | pubmed:meshHeading | pubmed-meshheading:2597162-... | lld:pubmed |
| pubmed-article:2597162 | pubmed:meshHeading | pubmed-meshheading:2597162-... | lld:pubmed |
| pubmed-article:2597162 | pubmed:meshHeading | pubmed-meshheading:2597162-... | lld:pubmed |
| pubmed-article:2597162 | pubmed:meshHeading | pubmed-meshheading:2597162-... | lld:pubmed |
| pubmed-article:2597162 | pubmed:year | 1989 | lld:pubmed |
| pubmed-article:2597162 | pubmed:articleTitle | Apolipoprotein E*3-Leiden allele results from a partial gene duplication in exon 4. | lld:pubmed |
| pubmed-article:2597162 | pubmed:affiliation | Department of Human Genetics, State University Leiden, The Netherlands. | lld:pubmed |
| pubmed-article:2597162 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:2597162 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2597162 | lld:pubmed |
