A truncated species of apolipoprotein B (B67) in a kindred with familial hypobetalipoproteinemia.

Míreanna Comhchosúla

• 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.
  le: Young, S G, et al.
  Foilsithe: (1990)
• Characterization of an abnormal species of apolipoprotein B, apolipoprotein B-37, associated with familial hypobetalipoproteinemia.
  le: Young, S G, et al.
  Foilsithe: (1987)
• Genetic analysis of a kindred with familial hypobetalipoproteinemia. Evidence for two separate gene defects: one associated with an abnormal apolipoprotein B species, apolipoprotein B-37; and a second associated with low plasma concentrations of apolipoprotein B-100.
  le: Young, S G, et al.
  Foilsithe: (1987)
• Inference of a molecular defect of apolipoprotein B in hypobetalipoproteinemia by linkage analysis in a large kindred.
  le: Leppert, M, et al.
  Foilsithe: (1988)
• Dual mechanisms for the low plasma levels of truncated apolipoprotein B proteins in familial hypobetalipoproteinemia. Analysis of a new mouse model with a nonsense mutation in the Apob gene.
  le: Kim, E, et al.
  Foilsithe: (1998)