Homozygous lecithin:cholesterol acyltransferase (LCAT) deficiency due to a new loss of function mutation and review of the literature

Journal of Clinical Lipidology

Volumn 5, Issue 6, 2011, Pages 493-499

  Roshan, Bijan ^a   Ganda, Om P ^a   Desilva, Ranil ^b   Ganim, Rose B ^c   Ward, Edmund ^d   Haessler, Sarah D ^c   Polisecki, Eliana Y ^d   Asztalos, Bela F ^d,e   Schaefer, Ernst J ^d,e  

^a HARVARD MEDICAL SCHOOL   (United States)

^b BETH ISRAEL DEACONESS MEDICAL CENTER   (United States)

^c BAYSTATE MEDICAL CENTER   (United States)

^d Boston Heart Diagnostics   (United States)

^e TUFTS UNIVERSITY   (United States)

Author keywords

Anemia; Apolipoprotein; Corneal opacification; High density lipoprotein; Lecithin:cholesterol acyltransferase; Renal disease

Indexed keywords

APOLIPOPROTEIN; DNA; HIGH DENSITY LIPOPROTEIN; PHOSPHATIDYLCHOLINE STEROL ACYLTRANSFERASE;

ADULT; ANEMIA; ARTICLE; ATHEROSCLEROSIS; CASE REPORT; CLINICAL FEATURE; CORNEA OPACITY; CORONARY ARTERY DISEASE; ENZYME DEFICIENCY; GENE MUTATION; GENE SEQUENCE; HEMOLYTIC ANEMIA; HOMOZYGOSITY; HUMAN; HYPERTENSION; KIDNEY FAILURE; KIDNEY FUNCTION; LOSS OF FUNCTION MUTATION; MALE; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; TWO DIMENSIONAL DIFFERENCE GEL ELECTROPHORESIS;

AMINO ACID SEQUENCE; APOLIPOPROTEIN A-I; CHOLESTEROL; CORNEAL OPACITY; ELECTROPHORESIS, GEL, TWO-DIMENSIONAL; HOMOZYGOTE; HUMANS; IMMUNOBLOTTING; LECITHIN ACYLTRANSFERASE DEFICIENCY; LIPOPROTEINS, HDL; MALE; MIDDLE AGED; MUTATION, MISSENSE; PHOSPHATIDYLCHOLINE-STEROL O-ACYLTRANSFERASE; PROTEINURIA; SEQUENCE ANALYSIS, DNA;

EID: 81855218058     PISSN: 19332874     EISSN: 18764789     Source Type: Journal    
DOI: 10.1016/j.jacl.2011.07.002     Document Type: Article

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