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.

Gelijkaardige items

• A truncated species of apolipoprotein B (B67) in a kindred with familial hypobetalipoproteinemia.
  door: Welty, F K, et al.
  Gepubliceerd in: (1991)
• Characterization of an abnormal species of apolipoprotein B, apolipoprotein B-37, associated with familial hypobetalipoproteinemia.
  door: Young, S G, et al.
  Gepubliceerd in: (1987)
• Metabolism of apolipoproteins B-48 and B-100 of triglyceride-rich lipoproteins in normal and lipoprotein lipase-deficient humans.
  door: Stalenhoef, A F, et al.
  Gepubliceerd in: (1984)
• Identification of Novel Mutations in Spatacsin and Apolipoprotein B Genes in a Patient with Spastic Paraplegia and Hypobetalipoproteinemia
  door: Peddareddygari, Leema Reddy, et al.
  Gepubliceerd in: (2015)
• Identification of Novel Mutations in Spatacsin and Apolipoprotein B Genes in a Patient with Spastic Paraplegia and Hypobetalipoproteinemia
  door: Leema Reddy Peddareddygari, et al.
  Gepubliceerd in: (2015-01-01)