Familial LCAT Deficiency and Low HDL-C Levels: In silico Characterization of Two Rare LCAT Missense Mutations

Familial LCAT Deficiency and Low HDL-C Levels: In silico Characterization of Two Rare LCAT Missense Mutations

Sebastian Ciro Acosta,1 Lorena Díaz-Ordóñez,1,2 Juan David Gutierrez-Medina,1,3 Yisther Katherine Silva-Cuero,1,2 Luis Guillermo Arango-Vélez,4,5 Andrés Octavio García-Trujillo,4,5 Harry Pachajoa1,2,6 1Centro de Investigaciones en Anomalias Congenitas y Enfermedades Raras (CIACER), Universidad Icesi...

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Bibliographic Details
Main Authors: Ciro Acosta S, Díaz-Ordóñez L, Gutierrez-Medina JD, Silva-Cuero YK, Arango-Vélez LG, García-Trujillo AO, Pachajoa H
Format: Article
Language:English
Published: Dove Medical Press 2024-02-01
Series:The Application of Clinical Genetics
Subjects:
eye
lcat
cholesterol/trafficking
genomics
vldl
lecithin cholesterol acyltransferase deficiency
lcat deficiency
alpha-lcat deficiency
fish eye disease.
Online Access:https://www.dovepress.com/familial-lcat-deficiency-and-low-hdl-c-levels-in-silico-characterizati-peer-reviewed-fulltext-article-TACG

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https://www.dovepress.com/familial-lcat-deficiency-and-low-hdl-c-levels-in-silico-characterizati-peer-reviewed-fulltext-article-TACG

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