title: Identification of the homozygous missense mutation in the lecithin:cholesterol-acyltransferase (LCAT) gene, causing LCAT familial deficiency in two French patients.
authors.affiliation: Laboratoire de Biochimie Médicale B, Faculté de Médecine 2, Rennes, France.
authors.forename: I
authors.initials: I
authors.lastname: Dorval
authors.forename: P
authors.initials: P
authors.lastname: Jezequel
authors.forename: C
authors.initials: C
authors.lastname: Dubourg
authors.forename: B
authors.initials: B
authors.lastname: Chauvel
authors.forename: P
authors.initials: P
authors.lastname: Le Pogamp
authors.forename: J Y
authors.initials: JY
authors.lastname: Le Gall
mesh_terms: D000328:Adult; D001483:Base Sequence; D005091:Exons / Q000235:genetics; D005260:Female; D006720:Homozygote; D006801:Humans; D007863:Lecithin Cholesterol Acyltransferase Deficiency / Q000235:genetics*; D007930:Leucine / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D007862:Phosphatidylcholine-Sterol O-Acyltransferase / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011392:Proline / Q000235:genetics
chemical_list: D011392:Proline; D007862:Phosphatidylcholine-Sterol O-Acyltransferase; D007930:Leucine