title: A novel missense mutation (Gly2Arg) in the human lysosomal acid lipase gene is found in individuals with and without cholesterol ester storage disease (CESD).
authors.affiliation: Institut für Klinische Chemie und Laboratoriumsmedizin, Zentrallaboratorium, Münster, Germany.
authors.forename: H
authors.initials: H
authors.lastname: Wiebusch
authors.forename: S
authors.initials: S
authors.lastname: Muntoni
authors.forename: H
authors.initials: H
authors.lastname: Funke
authors.forename: F
authors.initials: F
authors.lastname: Lu
authors.forename: U
authors.initials: U
authors.lastname: Seedorf
authors.forename: S
authors.initials: S
authors.lastname: Oberle
authors.forename: U
authors.initials: U
authors.lastname: Schwarzer
authors.forename: G
authors.initials: G
authors.lastname: Assmann
mesh_terms: 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
chemical_list: D008049:Lipase