Identification and functional analysis of missense mutations in the lecithin cholesterol acyltransferase gene in a Chilean patient with hypoalphalipoproteinemia

Identification and functional analysis of missense mutations in the lecithin cholesterol acyltransferase gene in a Chilean patient with hypoalphalipoproteinemia

Abstract Background Lecithin-cholesterol acyltransferase (LCAT) is a plasma enzyme that esterifies cholesterol in high- and low-density lipoproteins (HDL and LDL). Mutations in LCAT gene causes familial LCAT deficiency, which is characterized by very low plasma HDL-cholesterol levels (Hypoalphalipop...

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Bibliographic Details
Main Authors: Hugo E. Tobar, Luis R. Cataldo, Trinidad González, Ricardo Rodríguez, Valentina Serrano, Antonio Arteaga, Ana Álvarez-Mercado, Carlos F. Lagos, Lucas Vicuña, José P. Miranda, Ana Pereira, Carolina Bravo, Concepción M. Aguilera, Susana Eyheramendy, Ricardo Uauy, Álvaro Martínez, Ángel Gil, Omar Francone, Attilio Rigotti, José L. Santos
Format: Article
Language:English
Published: BMC 2019-06-01
Series:Lipids in Health and Disease
Subjects:
Lecithin-cholesterol acyltransferase
HDL-cholesterol
Variants
Hypoalphalipoproteinemia
Online Access:http://link.springer.com/article/10.1186/s12944-019-1045-0

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http://link.springer.com/article/10.1186/s12944-019-1045-0

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