title: Compound heterozygosity for a known (D250N) and a novel (E410K) missense mutation in the C-terminal domain of lipoprotein lipase causes familial chylomicronemia.
authors.affiliation: Institut für Arterioskleroseforschung an der Universität Münster, Germany.
authors.forename: H
authors.initials: H
authors.lastname: Wiebusch
authors.forename: H
authors.initials: H
authors.lastname: Funke
authors.forename: T
authors.initials: T
authors.lastname: Bruin
authors.forename: H
authors.initials: H
authors.lastname: Bucher
authors.forename: A
authors.initials: A
authors.lastname: von Eckardstein
authors.forename: J J
authors.initials: JJ
authors.lastname: Kastelein
authors.forename: G
authors.initials: G
authors.lastname: Assmann
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D016632:Apolipoprotein A-I / Q000097:blood; D001055:Apolipoproteins B / Q000097:blood; D001057:Apolipoproteins E / Q000097:blood / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002784:Cholesterol / Q000097:blood; D008076:Cholesterol, HDL / Q000097:blood; D002914:Chylomicrons / Q000097:blood*; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D008072:Hyperlipoproteinemia Type I / Q000097:blood* / Q000235:genetics*; D008071:Lipoprotein Lipase / Q000097:blood / Q000235:genetics*; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D011110:Polymorphism, Genetic; D014280:Triglycerides / Q000097:blood
chemical_list: D016632:Apolipoprotein A-I; D001055:Apolipoproteins B; D001057:Apolipoproteins E; D008076:Cholesterol, HDL; D002914:Chylomicrons; D014280:Triglycerides; D002784:Cholesterol; D008071:Lipoprotein Lipase