Population
Extended Christian Lebanese familial hypobetalipoproteinemia kindred and transfected McA-RH7777 cells…
Comparison
R463W mutation in the APOB gene vs Wild-type APOB
Design
Preclinical
Authors
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May link R463W to hypobetalipoproteinemia via impaired secretion; leaves open human relevance pending further studies.
The novel R463W mutation in the APOB gene causes familial hypobetalipoproteinemia by impairing the secretion of apoB-containing lipoproteins.
Burnett et al. (2003) studied this question.
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