Population
3 individuals with severe hypertriglyceridemia and recurrent pancreatitis from the Lipid Clinic at…
Comparison
LPL gene sequencing and in vitro transient… vs Wild type LPL plasmids (for in vitro experiments).
Design
Case_series
Authors
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These LPL variants may explain rare type I hyperlipoproteinemia cases; leaves open prevalence, penetrance, and management implications.
The study identifies a novel LPL variant (V227F) and confirms the pathogenicity of three known variants causing type I hyperlipoproteinemia through loss of function and reduced protein secretion.
Caddeo et al. (2017) studied this question.
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