| pubmed-article:10884919 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:10884919 | lifeskim:mentions | umls-concept:C0034821 | lld:lifeskim |
| pubmed-article:10884919 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:10884919 | lifeskim:mentions | umls-concept:C0017262 | lld:lifeskim |
| pubmed-article:10884919 | lifeskim:mentions | umls-concept:C0002085 | lld:lifeskim |
| pubmed-article:10884919 | lifeskim:mentions | umls-concept:C2911684 | lld:lifeskim |
| pubmed-article:10884919 | lifeskim:mentions | umls-concept:C0185117 | lld:lifeskim |
| pubmed-article:10884919 | pubmed:issue | 1 | lld:pubmed |
| pubmed-article:10884919 | pubmed:dateCreated | 2000-7-17 | lld:pubmed |
| pubmed-article:10884919 | pubmed:abstractText | To investigate the disease causing event in patients with familial hypercholesterolaemia, carrying two mutations each, E256K in exon 6 and I402T in exon 9, of the gene encoding the low density lipoprotein (LDL) receptor. It was not known whether the mutations were positioned in cis or trans, or if they were each pathogenic separately or only when present together. | lld:pubmed |
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| pubmed-article:10884919 | pubmed:language | eng | lld:pubmed |
| pubmed-article:10884919 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10884919 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:10884919 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10884919 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:10884919 | pubmed:month | Feb | lld:pubmed |
| pubmed-article:10884919 | pubmed:issn | 1366-8714 | lld:pubmed |
| pubmed-article:10884919 | pubmed:author | pubmed-author:Nilsson-EhleP... | lld:pubmed |
| pubmed-article:10884919 | pubmed:author | pubmed-author:SvegerTT | lld:pubmed |
| pubmed-article:10884919 | pubmed:author | pubmed-author:SoutarA KAK | lld:pubmed |
| pubmed-article:10884919 | pubmed:author | pubmed-author:AbrahamsonMM | lld:pubmed |
| pubmed-article:10884919 | pubmed:author | pubmed-author:FuFF | lld:pubmed |
| pubmed-article:10884919 | pubmed:author | pubmed-author:EkströmUU | lld:pubmed |
| pubmed-article:10884919 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:10884919 | pubmed:volume | 53 | lld:pubmed |
| pubmed-article:10884919 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:10884919 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:10884919 | pubmed:pagination | 31-6 | lld:pubmed |
| pubmed-article:10884919 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
| pubmed-article:10884919 | pubmed:meshHeading | pubmed-meshheading:10884919... | lld:pubmed |
| pubmed-article:10884919 | pubmed:meshHeading | pubmed-meshheading:10884919... | lld:pubmed |
| pubmed-article:10884919 | pubmed:meshHeading | pubmed-meshheading:10884919... | lld:pubmed |
| pubmed-article:10884919 | pubmed:meshHeading | pubmed-meshheading:10884919... | lld:pubmed |
| pubmed-article:10884919 | pubmed:meshHeading | pubmed-meshheading:10884919... | lld:pubmed |
| pubmed-article:10884919 | pubmed:meshHeading | pubmed-meshheading:10884919... | lld:pubmed |
| pubmed-article:10884919 | pubmed:meshHeading | pubmed-meshheading:10884919... | lld:pubmed |
| pubmed-article:10884919 | pubmed:meshHeading | pubmed-meshheading:10884919... | lld:pubmed |
| pubmed-article:10884919 | pubmed:meshHeading | pubmed-meshheading:10884919... | lld:pubmed |
| pubmed-article:10884919 | pubmed:meshHeading | pubmed-meshheading:10884919... | lld:pubmed |
| pubmed-article:10884919 | pubmed:meshHeading | pubmed-meshheading:10884919... | lld:pubmed |
| pubmed-article:10884919 | pubmed:meshHeading | pubmed-meshheading:10884919... | lld:pubmed |
| pubmed-article:10884919 | pubmed:meshHeading | pubmed-meshheading:10884919... | lld:pubmed |
| pubmed-article:10884919 | pubmed:year | 2000 | lld:pubmed |
| pubmed-article:10884919 | pubmed:articleTitle | Expression of an LDL receptor allele with two different mutations (E256K and I402T). | lld:pubmed |
| pubmed-article:10884919 | pubmed:affiliation | Department of Clinical Chemistry, University Hospital, Lund, Sweden. ulf.ekstrom@klinkem.lu.se | lld:pubmed |
| pubmed-article:10884919 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:10884919 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
