Compound heterozygosity for a known (D250N) and a novel (E410K) missense mutation in the C-terminal domain of lipoprotein lipase causes familial chylomicronemia.
Wiebusch
H
H
Institut für Arterioskleroseforschung an der Universität Münster, Germany.
Funke
H
H
Bruin
T
T
Bucher
H
H
von Eckardstein
A
A
Kastelein
J J
JJ
Assmann
G
G
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
D016632:Apolipoprotein A-I; D001055:Apolipoproteins B; D001057:Apolipoproteins E; D008076:Cholesterol, HDL; D002914:Chylomicrons; D014280:Triglycerides; D002784:Cholesterol; D008071:Lipoprotein Lipase