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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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Detalles Bibliográficos
Autores principales:	Conca, Paola, Pileggi, Silvana, Simonelli, Sara, Boer, Emanuela, Boscutti, Giuliano, Magnolo, Lucia, Tarugi, Patrizia, Penco, Silvana, Franceschini, Guido, Calabresi, Laura, Gomaraschi, Monica
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2012
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3361081/ https://www.ncbi.nlm.nih.gov/pubmed/22658148 http://dx.doi.org/10.1016/j.jacl.2012.01.006

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