Molecular characterization of two patients with severe LCAT deficiency.
Charlton-Menys
Valentine
V
Cardiovascular Research Group, University of Manchester, Manchester Royal Infirmary, Manchester, UK. valentine.menys@manchester.ac.uk
Pisciotta
Livia
L
Durrington
Paul N
PN
Neary
Richard
R
Short
Colin D
CD
Calabresi
Laura
L
Calandra
Sebastiano
S
Bertolini
Stefano
S
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
D008074:Lipoproteins; D008075:Lipoproteins, HDL; D043303:Aryldialkylphosphatase