title: Complete deficiency of plasma lecithin-cholesterol acyltransferase (LCAT) activity due to a novel homozygous mutation (Gly-30-Ser) in the LCAT gene.
authors.affiliation: University Department of Medicine, Royal Free Hospital School of Medicine, London, UK.
authors.forename: J S
authors.initials: JS
authors.lastname: Owen
authors.forename: H
authors.initials: H
authors.lastname: Wiebusch
authors.forename: P
authors.initials: P
authors.lastname: Cullen
authors.forename: G F
authors.initials: GF
authors.lastname: Watts
authors.forename: V L
authors.initials: VL
authors.lastname: Lima
authors.forename: H
authors.initials: H
authors.lastname: Funke
authors.forename: G
authors.initials: G
authors.lastname: Assmann
mesh_terms: D000328:Adult; D005260:Female; D006580:Genetic Carrier Screening; D005998:Glycine / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008055:Lipids / Q000097:blood; D008297:Male; D009154:Mutation; D010375:Pedigree; D007862:Phosphatidylcholine-Sterol O-Acyltransferase / Q000097:blood / Q000235:genetics*; D012694:Serine / Q000235:genetics*
chemical_list: D008055:Lipids; D012694:Serine; D007862:Phosphatidylcholine-Sterol O-Acyltransferase; D005998:Glycine