December 1, 1994Journal of Lipid ResearchOpen Access

Lipoprotein lipase deficiency due to a 3' splice site mutation in intron 6 of the lipoprotein lipase gene.

View Full Paper

Ask AI

Bookmark

Population

3 patients with primary hyperchylomicronemia due to lipoprotein lipase deficiency and 16 of their relatives.

Design

Case_series

Authors

Discussion

Adds novel LPL splice-site variant to hyperchylomicronemia differential; leaves open prevalence and therapeutic implications.

Population

3 patients with primary hyperchylomicronemia due to lipoprotein lipase (LPL) deficiency and 16 of their relatives (n=19 total).

Intervention

Genetic sequencing of translated exons and intron-exon boundaries of the LPL gene.

Outcome

Identification of genetic mutations causing LPL deficiency.surrogate

Identifies a novel 3' splice site mutation in intron 6 of the LPL gene as a genetic cause of primary hyperchylomicronemia.

Hölzl et al. (1994) studied this question.

View Full Paper

Ask AI

Bookmark