Ishimura-Oka, K

A missense mutation (Trp86----Arg) in exon 3 of the lipoprotein lipase gene: a cause of familial chylomicronemia. [electronic resource] - American journal of human genetics Jun 1992 - 1275-80 p. digital

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

0002-9297


Amino Acid Sequence
Arginine
Base Sequence
Chylomicrons--blood
Cloning, Molecular
Codon--genetics
DNA--genetics
Exons
Female
Humans
Hyperlipoproteinemia Type I--enzymology
Introns
Lipoprotein Lipase--deficiency
Male
Molecular Sequence Data
Mutation
Pedigree
Restriction Mapping
Tryptophan