Complete deficiency of plasma lecithin-cholesterol acyltransferase (LCAT) activity due to a novel homozygous mutation (Gly-30-Ser) in the LCAT gene.
Owen
J S
JS
University Department of Medicine, Royal Free Hospital School of Medicine, London, UK.
Wiebusch
H
H
Cullen
P
P
Watts
G F
GF
Lima
V L
VL
Funke
H
H
Assmann
G
G
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*
D008055:Lipids; D012694:Serine; D007862:Phosphatidylcholine-Sterol O-Acyltransferase; D005998:Glycine