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

Arteriosclerosis, Thrombosis, and Vascular Biology

Volumn 17, Issue 7, 1997, Pages 1382-1391

  Blanco Vaca, Francisco ^a,b,c   Qu, Shi Jing ^a   Fiol, Concha ^d   Fan, Hui Zhen ^a   Pao, Quein ^a   Marzal Casacuberta, Africa ^b,c   Albers, John J ^e   Hurtado, Isabel ^d   Gracia, Vicente ^d   Pintó, Xavier ^d   Martí, Tomás ^d   Pownall, Henry J ^a  

^a HOUSTON METHODIST HOSPITAL   (United States)

^b HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^c UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^d HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

^e UNIVERSITY OF WASHINGTON   (United States)

Author keywords

Arteriosclerosis; Cholesteryl esters; Corneal opacities; HDL; Lecithin Acyltransferase deficiency; Lipoproteins

Indexed keywords

MUTANT PROTEIN; PHOSPHATIDYLCHOLINE STEROL ACYLTRANSFERASE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CORNEA DISEASE; ENZYME ACTIVITY; ENZYME ANALYSIS; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; LIPID ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; SPAIN;

EID: 16944364616     PISSN: 10795642     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.ATV.17.7.1382     Document Type: Article

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