familial hypobetalipoproteinemia


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fa·mil·i·al hy·po·be·ta·lip·o·pro·tein·e·mi·a

a disorder similar to abetalipoproteinemia; chylomicron formation still occurs, but LDL levels are typically low.
References in periodicals archive ?
Familial hypobetalipoproteinemia caused by a mutation in the apolipoprotein B gene that results in a truncated species of apolipoprotein B (B-31): a unique mutation that helps to define the portion of the apolipoprotein B molecule required for the formation of buoyant triglyceride-rich lipoproteins.
A novel nontruncating APOB gene mutation, R463W, causes familial hypobetalipoproteinemia.
Two genetic disorders of lipid metabolism attributed to mutations in the APOB gene are familial hypobetalipoproteinemia (FHBL; OMIM 107730) and familial ligand-defective apoB-100 (FDB; OMIM 107730)
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