Kobayashi, J

A heterozygous mutation (the codon for Ser447----a stop codon) in lipoprotein lipase contributes to a defect in lipid interface recognition in a case with type I hyperlipidemia. [electronic resource] - Biochemical and biophysical research communications Jan 1992 - 70-7 p. digital

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

0006-291X

10.1016/s0006-291x(05)80113-5 doi


Adipose Tissue--enzymology
Adolescent
Amino Acid Sequence
Base Sequence
Codon--genetics
DNA--blood
Female
Genetic Carrier Screening
Humans
Hyperlipoproteinemia Type I--enzymology
Lipoprotein Lipase--genetics
Lymphocytes--enzymology
Molecular Sequence Data
Molecular Weight
Mutation
Oligodeoxyribonucleotides
Polymerase Chain Reaction
Serine