A novel missense (E163G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemia.
Wiebusch
H
H
Institut für Arterioskleroseforschung an der Universität Münster, Germany.
Funke
H
H
Santer
R
R
Richter
W
W
Assmann
G
G
D000293:Adolescent; D000483:Alleles; D003062:Codon; D005260:Female; D018698:Glutamic Acid; D006801:Humans; D008072:Hyperlipoproteinemia Type I / Q000097:blood* / Q000235:genetics*; D008071:Lipoprotein Lipase / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation
D003062:Codon; D018698:Glutamic Acid; D008071:Lipoprotein Lipase