| pubmed-article:8843667 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:8843667 | lifeskim:mentions | umls-concept:C0020792 | lld:lifeskim |
| pubmed-article:8843667 | lifeskim:mentions | umls-concept:C0006901 | lld:lifeskim |
| pubmed-article:8843667 | lifeskim:mentions | umls-concept:C2347026 | lld:lifeskim |
| pubmed-article:8843667 | lifeskim:mentions | umls-concept:C0370003 | lld:lifeskim |
| pubmed-article:8843667 | lifeskim:mentions | umls-concept:C0220908 | lld:lifeskim |
| pubmed-article:8843667 | lifeskim:mentions | umls-concept:C1704417 | lld:lifeskim |
| pubmed-article:8843667 | lifeskim:mentions | umls-concept:C0596607 | lld:lifeskim |
| pubmed-article:8843667 | lifeskim:mentions | umls-concept:C0205210 | lld:lifeskim |
| pubmed-article:8843667 | pubmed:issue | 1-2 | lld:pubmed |
| pubmed-article:8843667 | pubmed:dateCreated | 1996-12-2 | lld:pubmed |
| pubmed-article:8843667 | pubmed:abstractText | Familial defective apolipoprotein B-100 (FDB) is a dominantly inherited disorder. It is characterized by a decreased affinity of low density lipoprotein (LDL) for the LDL receptor, as a consequence of a substitution of adenine by guanine in exon 26 of the apolipoprotein B-100 gene, coding for the putative LDL receptor-binding domain of the mature protein. This disorder is associated with a strikingly high incidence of arteriosclerosis and tends to cause disease and premature death. In this communication we describe a rapid capillary gel electrophoretic method in combination with molecular biology techniques to facilitate the diagnosis of FDB. Mutation screening for FDB is performed by an allele-specific amplification followed by capillary gel electrophoresis (CGE). For the combined polymerase chain reaction (PCR)-CGE method, a total analysis time of only 3 h is needed, a period that is normally necessary for the run and for staining of the gel only, not including the time for PCR, gel casting, etc. In our pilot study 4 of 43 hypercholesterolemic patients were found to have the predominant apoB 3500 codon mutation. The verification is demonstrated by DNA-sequencing. This pilot study will be followed by a large cohort analysis of the south-west German population to determine the frequency of FDB in this area. The PCR-CGE method on the Dionex capillary electrophoresis system (CES I) allows rapid, fully automated detection of the mutation resulting in the unequivocal diagnosis of FDB. | lld:pubmed |
| pubmed-article:8843667 | pubmed:language | eng | lld:pubmed |
| pubmed-article:8843667 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8843667 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:8843667 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8843667 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8843667 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8843667 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:8843667 | pubmed:month | Sep | lld:pubmed |
| pubmed-article:8843667 | pubmed:issn | 0021-9673 | lld:pubmed |
| pubmed-article:8843667 | pubmed:author | pubmed-author:VoelterWW | lld:pubmed |
| pubmed-article:8843667 | pubmed:author | pubmed-author:LehmannRR | lld:pubmed |
| pubmed-article:8843667 | pubmed:author | pubmed-author:KochMM | lld:pubmed |
| pubmed-article:8843667 | pubmed:author | pubmed-author:HäringH UHU | lld:pubmed |
| pubmed-article:8843667 | pubmed:author | pubmed-author:LiebichH MHM | lld:pubmed |
| pubmed-article:8843667 | pubmed:author | pubmed-author:PfohlMM | lld:pubmed |
| pubmed-article:8843667 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:8843667 | pubmed:day | 13 | lld:pubmed |
| pubmed-article:8843667 | pubmed:volume | 744 | lld:pubmed |
| pubmed-article:8843667 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:8843667 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:8843667 | pubmed:pagination | 187-94 | lld:pubmed |
| pubmed-article:8843667 | pubmed:dateRevised | 2009-1-15 | lld:pubmed |
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| pubmed-article:8843667 | pubmed:year | 1996 | lld:pubmed |
| pubmed-article:8843667 | pubmed:articleTitle | Screening and identification of familial defective apolipoprotein B-100 in clinical samples by capillary gel electrophoresis. | lld:pubmed |
| pubmed-article:8843667 | pubmed:affiliation | Universität Tübingen, Innere Medizin Abteilung IV, Germany. | lld:pubmed |
| pubmed-article:8843667 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:8843667 | pubmed:publicationType | Comparative Study | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:8843667 | lld:pubmed |
