Knudsen P, Antikainen M, Uusi-Oukari M, Ehnholm S, Lahdenpera S, Bensadoun A, Funke H, Wiebusch H, Assmann G, Taskinen MR, Ehnholm C (1997)
Heterozygous hepatic lipase deficiency, due to two missense mutations R186H and L334F, in the HL gene
Atherosclerosis 128: 165

Knudsen P, Antikainen M, Ehnholm S, Uusi-Oukari M, Tenkanen H, Lahdenpera S, Kahri J, Tilly-Kiesi M, Bensadoun A, Taskinen MR, Ehnholm C (1996)
A compound heterozygote for hepatic lipase gene mutations Leu334-->Phe and Thr383-->Met: correlation between hepatic lipase activity and phenotypic expression
J Lipid Res 37: 825

Tenkanen H, Taskinen MR, Antikainen M, Ulmanen I, Kontula K, Ehnholm C (1994)
A novel amino acid substitution (His183-->Gln) in exon 5 of the lipoprotein lipase gene results in loss of catalytic activity: phenotypic expression of the mutant gene in a heterozygous state
J Lipid Res 35: 220