Identification and functional analysis of missense mutations in the lecithin cholesterol acyltransferase gene in a Chilean patient with hypoalphalipoproteinemia-Reference-Cited by-同舟云学术

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

Published:2019-06-05 Issue:1 Volume:18 Page:
ISSN:1476-511X
Container-title:Lipids in Health and Disease
language:en
Short-container-title:Lipids Health Dis

Author:

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.

Publisher

Springer Science and Business Media LLC

Subject

Biochemistry (medical),Clinical Biochemistry,Endocrinology,Endocrinology, Diabetes and Metabolism

Link

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

Reference34 articles.

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2. Hellerstein M, Turner S. Reverse cholesterol transport fluxes. Curr Opin Lipidol. 2014;25:40–7.

3. Norum KR, Glomset JA, Nichols AV, Forte T. Plasma lipoproteins in familial lecithin: cholesterol acyltransferase deficiency: physical and chemical studies of low and high density lipoproteins. J Clin Invest. 1971;50:1131–40.

4. Jonas A. Lecithin cholesterol acyltransferase. Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids. 2000;1529:245–56.

5. Saeedi R, Li M, Frohlich J. A review on lecithin:cholesterol acyltransferase deficiency. Clin Biochem. 2015;48:472–5.

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