A 33-year-old man with nephrotic syndrome and lecithin-cholesterol acyltransferase (LCAT) deficiency. Description of two new mutations in the LCAT gene.
Frascà
Giovanni M
GM
Nephrology, Dialysis and Renal Transplantation Unit, St Orsola University Hospital, Via Massarenti 9, 40137 Bologna, Italy. frasca@orsola-malpighi.med.unibo.it
Soverini
Letizia
L
Tampieri
Elena
E
Franceschini
Guido
G
Calabresi
Laura
L
Pisciotta
Livia
L
Preda
Paola
P
Vangelista
Alba
A
Stefoni
Sergio
S
Bertolini
Stefano
S
D000328:Adult; D001485:Basement Membrane / Q000473:pathology; D006801:Humans; D007678:Kidney Glomerulus / Q000473:pathology; D007863:Lecithin Cholesterol Acyltransferase Deficiency / Q000235:genetics*; D008297:Male; D009154:Mutation; D009404:Nephrotic Syndrome / Q000235:genetics*; D010375:Pedigree