Article
Heterozygous hepatic lipase deficiency, due to two missense mutations R186H and L334F, in the HL gene.
Atherosclerosis - 10 Feb 1997
Knudsen P, Antikainen M, Uusi-Oukari M, Ehnholm S, Lahdenperä S, Bensadoun A, Funke H, Wiebusch H, Assmann G, Taskinen M R, Ehnholm C
Abstract excerpt
Hepatic lipase (HL) is an endothelial enzyme involved in the metabolism of intermediate density lipoproteins (IDL) and high density lipoproteins (HDL) in plasma. In a Finnish pedigree consisting of 18 members belonging to three generations two missense mutations RI86H and L334F in exons 5 and 7 of the HL gene co-segregated with low post-heparin HL activity. Haplotype analysis of the HL gene in family members...
Topics
- Adolescent
- Adult
- Base Sequence
- Child
- Child, Preschool
- DNA
- Female
- Genes
- Heparin
- Heterozygote
- Humans
- Lipase
- Lipids
- Lipoproteins
- Liver
- Male