Pathogenic classification of LPL gene variants reported to be associated with LPL deficiency

Background Lipoprotein lipase (LPL) deficiency is a serious lipid disorder of severe hypertriglyceridemia (SHTG) with chylomicronemia. A large number of variants in the LPL gene have been reported but their influence on LPL activity and SHTG has not been completely analyzed. Gaining insight into the...

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Bibliographic Details
Published in:	Journal of clinical lipidology Vol. 10; no. 2; pp. 394 - 409
Main Authors:	Rodrigues, Rute, Artieda, Marta, Tejedor, Diego, Martínez, Antonio, Konstantinova, Pavlina, Petry, Harald, Meyer, Christian, Corzo, Deya, Sundgreen, Claus, Klor, Hans U, Gouni-Berthold, Ioanna, Westphal, Sabine, Steinhagen-Thiessen, Elisabeth, Julius, Ulrich, Winkler, Karl, Stroes, Erik, Vogt, Anja, Hardt, Phillip, Prophet, Heinrich, Otte, Britta, Nordestgaard, Borge G, Deeb, Samir S, Brunzell, John D
Format:	Journal Article
Language:	English
Published:	United States Elsevier Inc 01-03-2016
Subjects:	Cardiovascular Dyslipidemias Genetics and mutation classification system Humans Hyperlipoproteinemia Type I - complications Hyperlipoproteinemia Type I - enzymology Hyperlipoproteinemia Type I - genetics Hyperlipoproteinemia Type I - metabolism Hypertriglyceridemia - complications Lipase/lipoprotein deficiency Lipoprotein Lipase - genetics Lipoproteins/metabolism Microarrays Mutation Oligonucleotide Array Sequence Analysis Severe hypertriglyceridemia Triglycerides - metabolism Genetics and mutation classification system Lipoproteins/metabolism Dyslipidemias Microarrays Severe hypertriglyceridemia Lipase/lipoprotein deficiency
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