A hepatic lipase gene mutation associated with heritable lipolytic deficiency.

doi:10.1210/jcem-72-3-730

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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...

Topics

Adult
Base Sequence
Exons
Female
Genotype
Humans
Lipase
Liver
Male
Middle Aged
Molecular Sequence Data
Mutation
Polymorphism, Restriction Fragment Length

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