Classical LCAT deficiency resulting from a novel homozygous dinucleotide deletion in exon 4 of the human lecithin: Cholesterol acyltransferase gene causing a frameshift and stop codon at residue 144

Atherosclerosis

Volumn 146, Issue 1, 1999, Pages 141-151

  Teh, Evelyn M ^a   Chisholm, Jeffrey W ^b   Dolphin, Peter J ^a   Pouliquen, Yves ^c   Savoldelli, M ^c   De Gennes, J L ^e   Benlian, Pascale ^d  

^a DALHOUSIE UNIVERSITY   (Canada)

^b WAKE FOREST SCHOOL OF MEDICINE   (United States)

^c HÔTEL DIEU   (France)

^d HÔPITAL SAINT ANTOINE   (France)

^e PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

Corneal opacity; HDL deficiency; LCAT deficiency; Mutation

Indexed keywords

APOLIPOPROTEIN E; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; PHOSPHATIDYLCHOLINE STEROL ACYLTRANSFERASE;

ADULT; ARTICLE; CASE REPORT; CHOLESTEROL ESTERIFICATION; CHOLESTEROL TRANSPORT; CORNEA OPACITY; DNA SEQUENCE; ENZYME DEFICIENCY; EXON; FEMALE; GENE DELETION; GENE MUTATION; HUMAN; LIPOPROTEIN BLOOD LEVEL; PRIORITY JOURNAL; STOP CODON; TRIACYLGLYCEROL BLOOD LEVEL;

ADOLESCENT; APOLIPOPROTEINS; BASE SEQUENCE; CODON; CORNEA; CORNEAL OPACITY; DNA MUTATIONAL ANALYSIS; ELECTROPHORESIS, AGAR GEL; EXONS; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; HUMANS; LECITHIN ACYLTRANSFERASE DEFICIENCY; MOLECULAR SEQUENCE DATA; PHENOTYPE; PHOSPHATIDYLCHOLINE-STEROL O-ACYLTRANSFERASE; PHOSPHATIDYLCHOLINES; POLYMERASE CHAIN REACTION;

EID: 0032814573     PISSN: 00219150     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0021-9150(99)00112-4     Document Type: Article

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