| pubmed-article:2121025 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:2121025 | lifeskim:mentions | umls-concept:C0019425 | lld:lifeskim |
| pubmed-article:2121025 | lifeskim:mentions | umls-concept:C0205145 | lld:lifeskim |
| pubmed-article:2121025 | lifeskim:mentions | umls-concept:C0017337 | lld:lifeskim |
| pubmed-article:2121025 | lifeskim:mentions | umls-concept:C0021920 | lld:lifeskim |
| pubmed-article:2121025 | lifeskim:mentions | umls-concept:C0023816 | lld:lifeskim |
| pubmed-article:2121025 | lifeskim:mentions | umls-concept:C0023817 | lld:lifeskim |
| pubmed-article:2121025 | lifeskim:mentions | umls-concept:C1705165 | lld:lifeskim |
| pubmed-article:2121025 | lifeskim:mentions | umls-concept:C2700061 | lld:lifeskim |
| pubmed-article:2121025 | lifeskim:mentions | umls-concept:C0887918 | lld:lifeskim |
| pubmed-article:2121025 | lifeskim:mentions | umls-concept:C0205198 | lld:lifeskim |
| pubmed-article:2121025 | pubmed:issue | 4 | lld:pubmed |
| pubmed-article:2121025 | pubmed:dateCreated | 1990-11-2 | lld:pubmed |
| pubmed-article:2121025 | pubmed:abstractText | Cloning and sequencing of translated exons and intron-exon boundaries of the lipoprotein lipase gene in a patient of French descent who has the chylomicronemia syndrome revealed that he was a compound heterozygote for two nucleotide substitutions. One (TCC----ACC) leads to an amino acid substitution (Ser----Thr244), while the other alters the 3' splice site of intron 2 (AG----AA). The functional significance of the Thr244 amino acid substitution was established by in vitro expression in cultured mammalian cells. | lld:pubmed |
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| pubmed-article:2121025 | pubmed:language | eng | lld:pubmed |
| pubmed-article:2121025 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:2121025 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:2121025 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:2121025 | pubmed:month | Oct | lld:pubmed |
| pubmed-article:2121025 | pubmed:issn | 0002-9297 | lld:pubmed |
| pubmed-article:2121025 | pubmed:author | pubmed-author:IveriusP HPH | lld:pubmed |
| pubmed-article:2121025 | pubmed:author | pubmed-author:LalouelJ MJM | lld:pubmed |
| pubmed-article:2121025 | pubmed:author | pubmed-author:BasdevantAA | lld:pubmed |
| pubmed-article:2121025 | pubmed:author | pubmed-author:GambertPP | lld:pubmed |
| pubmed-article:2121025 | pubmed:author | pubmed-author:HataAA | lld:pubmed |
| pubmed-article:2121025 | pubmed:author | pubmed-author:FOXCC | lld:pubmed |
| pubmed-article:2121025 | pubmed:author | pubmed-author:LucGG | lld:pubmed |
| pubmed-article:2121025 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:2121025 | pubmed:volume | 47 | lld:pubmed |
| pubmed-article:2121025 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:2121025 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:2121025 | pubmed:pagination | 721-6 | lld:pubmed |
| pubmed-article:2121025 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
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| pubmed-article:2121025 | pubmed:meshHeading | pubmed-meshheading:2121025-... | lld:pubmed |
| pubmed-article:2121025 | pubmed:year | 1990 | lld:pubmed |
| pubmed-article:2121025 | pubmed:articleTitle | Compound heterozygote for lipoprotein lipase deficiency: Ser----Thr244 and transition in 3' splice site of intron 2 (AG----AA) in the lipoprotein lipase gene. | lld:pubmed |
| pubmed-article:2121025 | pubmed:affiliation | Howard Hughes Medical Institute, University of Utah Health Sciences Center, Salt Lake City 84132. | lld:pubmed |
| pubmed-article:2121025 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:2121025 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:2121025 | pubmed:publicationType | Research Support, U.S. Gov't, Non-P.H.S. | lld:pubmed |
| pubmed-article:2121025 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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