(Q72724167)
Statements
A novel missense mutation in the gene for lipoprotein lipase resulting in a highly conservative amino acid substitution (Asp180-->Glu) causes familial chylomicronemia (type I hyperlipoproteinemia) (English)
Haubenwallner S
Hörl G
Shachter NS
Presta E
Fried SK
Höfler G
Kostner GM
1 November 1993