A novel missense mutation in the C-terminal domain of lipoprotein lipase (Glu410-->Val) leads to enzyme inactivation and familial chylomicronemia.

Authors: J. r. Brewer HB
Ka Dugi
Ornella Guardamagna
L Previato
R Ronan
S Santamarina Fojo
Gd Talley
Publication date: 1 January 1994
Publisher: -AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC, 9650 ROCKVILLE PIKE, BETHESDA, USA, MD, 20814-3996 -Lipid Research Incorporated:9650 Rockville Pike:Bethesda, MD 20814:(800)633-4931, EMAIL: [email protected], Fax: (301)634-7129

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