| pubmed-article:10998475 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:10998475 | lifeskim:mentions | umls-concept:C0035820 | lld:lifeskim |
| pubmed-article:10998475 | lifeskim:mentions | umls-concept:C0178539 | lld:lifeskim |
| pubmed-article:10998475 | lifeskim:mentions | umls-concept:C1412058 | lld:lifeskim |
| pubmed-article:10998475 | lifeskim:mentions | umls-concept:C1704429 | lld:lifeskim |
| pubmed-article:10998475 | lifeskim:mentions | umls-concept:C0205216 | lld:lifeskim |
| pubmed-article:10998475 | lifeskim:mentions | umls-concept:C0596611 | lld:lifeskim |
| pubmed-article:10998475 | lifeskim:mentions | umls-concept:C2246761 | lld:lifeskim |
| pubmed-article:10998475 | lifeskim:mentions | umls-concept:C1524003 | lld:lifeskim |
| pubmed-article:10998475 | lifeskim:mentions | umls-concept:C0205214 | lld:lifeskim |
| pubmed-article:10998475 | pubmed:issue | 2 | lld:pubmed |
| pubmed-article:10998475 | pubmed:dateCreated | 2000-12-7 | lld:pubmed |
| pubmed-article:10998475 | pubmed:abstractText | High density lipoproteins (HDL) are complex lipoprotein particles involved in reverse cholesterol (C) transport and are negatively associated with the risk for coronary artery disease (CAD). We have described a disorder of familial HDL deficiency (FHD) due to abnormal cellular cholesterol efflux. In the present study, we investigated cellular cholesterol efflux on skin fibroblast from 15 probands with moderate to severe hypoalphalipoproteinemia, including one subject with Tangier disease (TD). We performed family studies on eight of these probands (269 individuals) with familial hypoalphalipoproteinemia (defined as a HDL-C <5th%, and with no known cause of HDL deficiency). We have previously shown that four of our FHD patients and patients with TD have mutations at the ABC1 gene, demonstrating that FHD is a heterozygous form of TD. | lld:pubmed |
| pubmed-article:10998475 | pubmed:language | eng | lld:pubmed |
| pubmed-article:10998475 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10998475 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:10998475 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10998475 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10998475 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10998475 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10998475 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:10998475 | pubmed:month | Oct | lld:pubmed |
| pubmed-article:10998475 | pubmed:issn | 0021-9150 | lld:pubmed |
| pubmed-article:10998475 | pubmed:author | pubmed-author:YuLL | lld:pubmed |
| pubmed-article:10998475 | pubmed:author | pubmed-author:BoucherBB | lld:pubmed |
| pubmed-article:10998475 | pubmed:author | pubmed-author:MottSS | lld:pubmed |
| pubmed-article:10998475 | pubmed:author | pubmed-author:GenestJJJr | lld:pubmed |
| pubmed-article:10998475 | pubmed:author | pubmed-author:MarcilMM | lld:pubmed |
| pubmed-article:10998475 | pubmed:author | pubmed-author:RondeauCC | lld:pubmed |
| pubmed-article:10998475 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:10998475 | pubmed:volume | 152 | lld:pubmed |
| pubmed-article:10998475 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:10998475 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:10998475 | pubmed:pagination | 457-68 | lld:pubmed |
| pubmed-article:10998475 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
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| pubmed-article:10998475 | pubmed:meshHeading | pubmed-meshheading:10998475... | lld:pubmed |
| pubmed-article:10998475 | pubmed:year | 2000 | lld:pubmed |
| pubmed-article:10998475 | pubmed:articleTitle | Decreased cellular cholesterol efflux is a common cause of familial hypoalphalipoproteinemia: role of the ABCA1 gene mutations. | lld:pubmed |
| pubmed-article:10998475 | pubmed:affiliation | Cardiovascular Genetics Laboratory, McGill University Health Center, Royal Victoria Hospital, 686 Pine Avenue West, Québec, 3A 1A1, Montréal, Canada. | lld:pubmed |
| pubmed-article:10998475 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:10998475 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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