A novel missense mutation (Gly2Arg) in the human lysosomal acid lipase gene is found in individuals with and without cholesterol ester storage disease (CESD).
Wiebusch
H
H
Institut für Klinische Chemie und Laboratoriumsmedizin, Zentrallaboratorium, Münster, Germany.
Muntoni
S
S
Funke
H
H
Lu
F
F
Seedorf
U
U
Oberle
S
S
Schwarzer
U
U
Assmann
G
G
D000483:Alleles; D015217:Cholesterol Ester Storage Disease / Q000201:enzymology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005858:Germany / Q000453:epidemiology; D006801:Humans; D008049:Lipase / Q000235:genetics*; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D014421:Turkey / Q000208:ethnology
D008049:Lipase