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

doi:10.1016/j.jacl.2015.12.015

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Article

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

Journal of clinical lipidology - 1 Jan 2000

Rodrigues Rute, Artieda Marta, Tejedor Diego, Martínez Antonio, Konstantinova Pavlina, Petry Harald, Meyer Christian, Corzo Deyanira, 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

Abstract excerpt

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 deleterious effect of the mutations is clinically essential. METHODS: We used gene sequencing followed by...

Topics

Humans
Hyperlipoproteinemia Type I
Hypertriglyceridemia
Lipoprotein Lipase
Mutation
Oligonucleotide Array Sequence Analysis
Triglycerides

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PMID: 27055971
DOI: 10.1016/j.jacl.2015.12.015

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