Article
Asymptomatic homozygous hypobetalipoproteinemia associated with apolipoprotein B45.2.
Human molecular genetics - 1 May 1994
Young S G, Bihain B, Flynn L M, Sanan D A, Ayrault-Jarrier M, Jacotot B
Abstract excerpt
Familial hypobetalipoproteinemia is caused by apolipoprotein (apo) B gene mutations and is frequently associated with a truncated apo-B protein in the plasma. Homozygosity for mutations yielding a truncated apo-B is extremely rare; fewer than five true homozygotes have been described in the world's literature. These patients typically have normal levels of triglycerides and virtually absent low density...
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