title: Molecular characterization of two patients with severe LCAT deficiency.
authors.affiliation: Cardiovascular Research Group, University of Manchester, Manchester Royal Infirmary, Manchester, UK. valentine.menys@manchester.ac.uk
authors.forename: Valentine
authors.initials: V
authors.lastname: Charlton-Menys
authors.forename: Livia
authors.initials: L
authors.lastname: Pisciotta
authors.forename: Paul N
authors.initials: PN
authors.lastname: Durrington
authors.forename: Richard
authors.initials: R
authors.lastname: Neary
authors.forename: Colin D
authors.initials: CD
authors.lastname: Short
authors.forename: Laura
authors.initials: L
authors.lastname: Calabresi
authors.forename: Sebastiano
authors.initials: S
authors.lastname: Calandra
authors.forename: Stefano
authors.initials: S
authors.lastname: Bertolini
mesh_terms: D000328:Adult; D043303:Aryldialkylphosphatase / Q000097:blood*; D003316:Corneal Diseases / Q000235:genetics; D005260:Female; D006801:Humans; D007674:Kidney Diseases / Q000175:diagnosis* / Q000235:genetics*; D007863:Lecithin Cholesterol Acyltransferase Deficiency / Q000175:diagnosis* / Q000235:genetics*; D008074:Lipoproteins / Q000378:metabolism; D008075:Lipoproteins, HDL / Q000378:metabolism*; D008297:Male; D008854:Microscopy, Electron; D009154:Mutation
chemical_list: D008074:Lipoproteins; D008075:Lipoproteins, HDL; D043303:Aryldialkylphosphatase