Molecular analysis of a novel LCAT mutation (GLy179→Arg) found in a patient with complete LCAT deficiency

Journal of Atherosclerosis and Thrombosis

Volumn 18, Issue 8, 2011, Pages 713-719

  Wang, Xiao Li ^a,b   Osuga, Jun ichi ^a   Tazoe, Fumiko ^a   Okada, Kenta ^a   Nagashima, Shuichi ^a   Takahashi, Manabu ^a   Ohshiro, Taichi ^a   Bayasgalan, Tumenbayar ^a   Yagyu, Hiroaki ^a   Okada, Koji ^c   Ishibashi, Shun ^a  

^a JICHI MEDICAL UNIVERSITY   (Japan)

^b CHINA MEDICAL UNIVERSITY   (China)

^c International University of Health and Welfare Hospital   (Japan)

Author keywords

Cholesterol; HDL; LCAT; Mutation

Indexed keywords

APOLIPOPROTEIN E; CHOLESTEROL; GLYCINE; GLYCINE 179; PHOSPHATIDYLCHOLINE STEROL ACYLTRANSFERASE; TRIACYLGLYCEROL; UNCLASSIFIED DRUG;

ADULT; ANEMIA; ARTICLE; CASE REPORT; CELL STRAIN HEK293; CHOLESTEROL BLOOD LEVEL; CLINICAL FEATURE; CORNEA OPACITY; DNA SEQUENCE; FEMALE; GENE; GENE MUTATION; HUMAN; LCAT GENE; LECITHIN CHOLESTEROL ACYLTRANSFERASE DEFICIENCY; MOLECULAR GENETICS; PROTEIN EXPRESSION; PROTEINURIA; TRIACYLGLYCEROL BLOOD LEVEL;

CATALYSIS; CHOLESTEROL; DNA MUTATIONAL ANALYSIS; ESTERIFICATION; FEMALE; HEK293 CELLS; HUMANS; LECITHIN ACYLTRANSFERASE DEFICIENCY; MALE; MIDDLE AGED; MUTATION; MUTATION, MISSENSE; PEDIGREE; PHOSPHATIDYLCHOLINE-STEROL O-ACYLTRANSFERASE; RECOMBINANT PROTEINS;

EID: 80052072713     PISSN: 13403478     EISSN: 18803873     Source Type: Journal    
DOI: 10.5551/jat.8003     Document Type: Article

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