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]
Producer: 19920218Description: 70-7 p. digitalISSN:- 0006-291X
- 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
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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.
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