TY  - JOUR
AU  - Tobar, Hugo E
AU  - Cataldo, Luis R
AU  - González, Trinidad
AU  - Rodríguez, Ricardo
AU  - Serrano, Valentina
AU  - Arteaga, Antonio
AU  - Álvarez-Mercado, Ana
AU  - Lagos, Carlos F
AU  - Vicuña, Lucas
AU  - Miranda, José P
AU  - Pereira, Ana
AU  - Bravo, Carolina
AU  - Aguilera, Concepción M
AU  - Eyheramendy, Susana
AU  - Uauy, Ricardo
AU  - Martínez, Álvaro
AU  - Gil, Ángel
AU  - Francone, Omar
AU  - Rigotti, Attilio
AU  - Santos, José L
PY  - 2019
DO  - 10.1186/s12944-019-1045-0
UR  - http://hdl.handle.net/10668/14077
T2  - Lipids in health and disease
AB  - 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...
LA  - en
KW  - HDL-cholesterol
KW  - Hypoalphalipoproteinemia
KW  - Lecithin-cholesterol acyltransferase
KW  - Variants
KW  - Adult
KW  - Aged
KW  - Chile
KW  - Cholesterol
KW  - Cholesterol, HDL
KW  - Corneal Opacity
KW  - Exons
KW  - Female
KW  - HEK293 Cells
KW  - Humans
KW  - Hypoalphalipoproteinemias
KW  - Lecithin Cholesterol Acyltransferase Deficiency
KW  - Lipids
KW  - Lipoproteins, HDL
KW  - Molecular Dynamics Simulation
KW  - Mutation, Missense
KW  - Pedigree
KW  - Phosphatidylcholine-Sterol O-Acyltransferase
KW  - Structure-Activity Relationship
TI  - Identification and functional analysis of missense mutations in the lecithin cholesterol acyltransferase gene in a Chilean patient with hypoalphalipoproteinemia.
TY  - research article
VL  - 18
ER  -