Article
A hepatic lipase gene mutation associated with heritable lipolytic deficiency.
The Journal of clinical endocrinology and metabolism - 1 Mar 1991
Hegele R A, Vezina C, Moorjani S, Lupien P J, Gagne C, Brun L D, Little J A, Connelly P W
Abstract excerpt
Absent hepatic lipase (HL) activity results in dyslipidemia and premature atherosclerosis. DNA sequencing of the HL gene from subjects with heritable HL deficiency identified a new C to T substitution within exon 8 that in the mature enzyme caused a threonine to methionine change at position 383 (T383M). With a rapid DNA detection method we observed that all 6 individuals with complete HL deficiency from 2...
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