title: Deficiency of lecithin:cholesterol acyltransferase due to compound heterozygosity of two novel mutations (Gly33Arg and 30 bp ins) in the LCAT gene.
authors.affiliation: Institut für Arterioskleroseforschung an der Universität Münster, Germany.
authors.forename: H
authors.initials: H
authors.lastname: Wiebusch
authors.forename: P
authors.initials: P
authors.lastname: Cullen
authors.forename: J S
authors.initials: JS
authors.lastname: Owen
authors.forename: D
authors.initials: D
authors.lastname: Collins
authors.forename: P S
authors.initials: PS
authors.lastname: Sharp
authors.forename: H
authors.initials: H
authors.lastname: Funke
authors.forename: G
authors.initials: G
authors.lastname: Assmann
mesh_terms: D000293:Adolescent; D000368:Aged; D000595:Amino Acid Sequence; D001120:Arginine / Q000235:genetics*; D001483:Base Sequence; D005260:Female; D005998:Glycine / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007863:Lecithin Cholesterol Acyltransferase Deficiency / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional; D009154:Mutation; D009838:Oligodeoxyribonucleotides; D007862:Phosphatidylcholine-Sterol O-Acyltransferase / Q000235:genetics*
chemical_list: D009838:Oligodeoxyribonucleotides; D001120:Arginine; D007862:Phosphatidylcholine-Sterol O-Acyltransferase; D005998:Glycine