Publication

Identification of a Gain-of-Function LIPC Variant as a Novel Cause of Familial Combined Hypocholesterolemia.

Circulation 2022 25 citations

Wieneke Dijk, Mathilde Di Filippo, Sander Kooijman, Robin van Eenige, Antoine Rimbert, Amandine Caillaud, Aurélie Thedrez, Lucie Arnaud, Amanda Pronk, Damien Garçon, Thibaud Sotin, Pierre Lindenbaum, Enrique Ozcariz Garcia, Jean-Paul Pais de Barros, Laurence Duvillard, Karim Si-Tayeb, Núria Amigó, Jean-Yves Le Questel, Patrick C N Rensen, Cédric Le May, Philippe Moulin, Bertrand Cariou

Publication type
Original article
Citations
25 (OpenAlex, 16 October 2026)
DOI
10.1161/circulationaha.121.057978
PMID
35899625

Field of study

  • Cardiovascular disease and lipids

Analytical platform

  • NMR lipoprotein profiling

Matrix

  • Serum or plasma