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Molecular basis of fish-eye disease in a patient from Spain: Characterization of a novel mutation in the LCAT gene and lipid analysis of the cornea

Autor: Àfrica Marzal-Casacuberta, Xavier Pintó, Isabel Hurtado, Henry J. Pownall, Hui Zhen Fan, Francisco Blanco-Vaca, Concha Fiol, John J. Albers, Quein Pao, Tomás Martí, Shi Jing Qu, V. Gracia

Publikováno v: Scopus-Elsevier

Abstract The genetic and biochemical basis of fish-eye disease (FED) was investigated in a 63-year-old female proband with low plasma HDL cholesterol. Analyses of corneal and plasma lipids of the proband were consistent with impaired lecithin:cholest

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c69d5671109ff9e143674356d5f15816
http://www.scopus.com/inward/record.url?eid=2-s2.0-16944364616&partnerID=MN8TOARS

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