Population
Humans with abetalipoproteinemia
Design
Review
Authors
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Supports rare lipid disorder evaluation; leaves open MTP modulation for broader dyslipidemia therapies.
The paper highlights that mutations in the large subunit of MTP cause abetalipoproteinemia, demonstrating MTP's essential role in apoB-containing lipoprotein assembly and secretion.
Gregg et al. (1994) studied this question.
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