Deficiency of lecithin:cholesterol acyltransferase due to compound heterozygosity of two novel mutations (Gly33Arg and 30 bp ins) in the LCAT gene.
Wiebusch
H
H
Institut für Arterioskleroseforschung an der Universität Münster, Germany.
Cullen
P
P
Owen
J S
JS
Collins
D
D
Sharp
P S
PS
Funke
H
H
Assmann
G
G
D000293:Adolescent; D000368:Aged; D000595:Amino Acid Sequence; D001120:Arginine / Q000235:genetics*; D001483:Base Sequence; D005260:Female; D005998:Glycine / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007863:Lecithin Cholesterol Acyltransferase Deficiency / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional; D009154:Mutation; D009838:Oligodeoxyribonucleotides; D007862:Phosphatidylcholine-Sterol O-Acyltransferase / Q000235:genetics*
D009838:Oligodeoxyribonucleotides; D001120:Arginine; D007862:Phosphatidylcholine-Sterol O-Acyltransferase; D005998:Glycine