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

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 (Hypoalphalipoproteinem...

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Detalles Bibliográficos
Autores principales: Tobar, Hugo E., Cataldo, Luis R., González, Trinidad, Rodríguez, Ricardo, Serrano, Valentina, Arteaga, Antonio, Álvarez-Mercado, Ana, Lagos, Carlos F., Vicuña, Lucas, Miranda, José P., Pereira, Ana, Bravo, Carolina, Aguilera, Concepción M., Eyheramendy, Susana, Uauy, Ricardo, Martínez, Álvaro, Gil, Ángel, Francone, Omar, Rigotti, Attilio, Santos, José L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6549291/
https://www.ncbi.nlm.nih.gov/pubmed/31164121
http://dx.doi.org/10.1186/s12944-019-1045-0

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