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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