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Identification and functional analysis of missense mutations in the lecithin cholesterol acyltransferase gene in a Chilean patient with hypoalphalipoproteinemia.
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.
Affiliation
  • Tobar HE; Department of Nutrition, Diabetes and Metabolism, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.
  • Cataldo LR; Department of Nutrition, Diabetes and Metabolism, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.
  • González T; Department of Nutrition, Diabetes and Metabolism, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.
  • Rodríguez R; Department of Nutrition, Diabetes and Metabolism, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.
  • Serrano V; Department of Nutrition, Diabetes and Metabolism, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.
  • Arteaga A; Department of Nutrition, Diabetes and Metabolism, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.
  • Álvarez-Mercado A; INYTA, University of Granada, Granada, Spain.
  • Lagos CF; Facultad de Medicina y Ciencia, Universidad San Sebastián, Campus Los Leones, Santiago, Chile.
  • Vicuña L; Departamento de Estadísticas, Facultad de Matemáticas, Pontificia Universidad Católica de Chile, Santiago, Chile.
  • Miranda JP; Department of Nutrition, Diabetes and Metabolism, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.
  • Pereira A; INTA, Universidad de Chile, Santiago, Chile.
  • Bravo C; Department of Nutrition, Diabetes and Metabolism, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.
  • Aguilera CM; Department of Biochemistry and Molecular Biology II, Institute of Nutrition and Food Technology "José Mataix", Center of Biomedical Research, University of Granada, Granada, Spain.
  • Eyheramendy S; Departamento de Estadísticas, Facultad de Matemáticas, Pontificia Universidad Católica de Chile, Santiago, Chile.
  • Uauy R; INTA, Universidad de Chile, Santiago, Chile.
  • Martínez Á; División de Pediatría, Escuela de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.
  • Gil Á; Fundación Ciencia & Vida, Santiago, Chile.
  • Francone O; INYTA, University of Granada, Granada, Spain.
  • Rigotti A; Pfizer Global Research and Development, San Diego, USA.
  • Santos JL; Department of Nutrition, Diabetes and Metabolism, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.
Lipids Health Dis ; 18(1): 132, 2019 Jun 05.
Article in En | MEDLINE | ID: mdl-31164121
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Hypoalphalipoproteinemias / Phosphatidylcholine-Sterol O-Acyltransferase / Lecithin Cholesterol Acyltransferase Deficiency / Lipids Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Aged / Female / Humans Country/Region as subject: America do sul / Chile Language: En Journal: Lipids Health Dis Journal subject: BIOQUIMICA / METABOLISMO Year: 2019 Document type: Article Affiliation country: Chile Country of publication: Reino Unido
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Hypoalphalipoproteinemias / Phosphatidylcholine-Sterol O-Acyltransferase / Lecithin Cholesterol Acyltransferase Deficiency / Lipids Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Aged / Female / Humans Country/Region as subject: America do sul / Chile Language: En Journal: Lipids Health Dis Journal subject: BIOQUIMICA / METABOLISMO Year: 2019 Document type: Article Affiliation country: Chile Country of publication: Reino Unido