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).

Haubenwallner, S

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). [electronic resource] - Genomics Nov 1993 - 392-6 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

0888-7543

10.1006/geno.1993.1481 doi


Amino Acid Sequence
Base Sequence
Conserved Sequence
DNA
Exons
Female
Humans
Hyperlipoproteinemia Type I--enzymology
Lipoprotein Lipase--genetics
Male
Molecular Sequence Data
Mutation
Pedigree
Restriction Mapping