Novel missense variants in LCAT and APOB genes in an Italian kindred with familial lecithin:cholesterol acyltransferase deficiency and hypobetalipoproteinemia

BACKGROUND: Lecithin:cholesterol acyltransferase (LCAT) is responsible for cholesterol esterification in plasma. Mutations of LCAT gene cause familial LCAT deficiency, a metabolic disorder characterized by hypoalphalipoproteinemia. Apolipoprotein B (apoB) is the main protein component of very-low-de...

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Détails bibliographiques
Auteurs principaux: Conca, Paola, Pileggi, Silvana, Simonelli, Sara, Boer, Emanuela, Boscutti, Giuliano, Magnolo, Lucia, Tarugi, Patrizia, Penco, Silvana, Franceschini, Guido, Calabresi, Laura, Gomaraschi, Monica
Format: Artigo
Langue:Inglês
Publié: Elsevier 2012
Sujets:
Original Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3361081/
https://ncbi.nlm.nih.gov/pubmed/22658148
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jacl.2012.01.006
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