title: Apolipoprotein B detected in the plasma of a patient with homozygous hypobetalipoproteinaemia: implications for aetiology.
abstract: A hypobetalipoproteinaemic kindred is described in which the proband manifested the clinical and biochemical features of the homozygous state. Unlike the apparent complete absence of apolipoprotein B in the plasma of the five cases of homozygous hypobetalipoproteinaemia reported so far, we were able to demonstrate minute quantities of this protein (approximately 0.025% of normal) in the plasma of the proband. This finding suggests that the disorder may not result from a structural gene defect but may rather reflect a failure of secretion.
mesh_terms: D001053:Apolipoproteins / Q000097:blood* / Q000378:metabolism; D001055:Apolipoproteins B; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D006995:Hypobetalipoproteinemias / Q000097:blood* / Q000235:genetics; D007009:Hypolipoproteinemias / Q000097:blood*; D010375:Pedigree
chemical_list: D001053:Apolipoproteins; D001055:Apolipoproteins B