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

@article{Rodrigues2016PathogenicCO,
  title={Pathogenic classification of LPL gene variants reported to be associated with LPL deficiency.},
  author={Rute Rodrigues and Marta Artieda and Diego Tejedor and Antonio Olivas Martinez and Pavlina D. Konstantinova and Harald Petry and Christian Meyer and Deyanira Corzo and Claus Sundgreen and Hans U Klor and Ioanna Gouni-Berthold and Sabine Westphal and Elisabeth Steinhagen-Thiessen and U. Julius and Karl Winkler and Erik Stroes and Anja Vogt and Phillip Hardt and Heinrich Prophet and Britta Otte and Borge G. Nordestgaard and Samir S. Deeb and John D. Brunzell},
  journal={Journal of clinical lipidology},
  year={2016},
  volume={10 2},
  pages={394-409}
}
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 in-vivo/in-vitro and in-silico tools for classification. We classified 125 rare LPL… CONTINUE READING
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