Asymptomatic homozygous hypobetalipoproteinemia associated with apolipoprotein B45.2.

doi:10.1093/hmg/3.5.741

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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...

Topics

Alleles
Apolipoproteins B
Cholesterol, LDL
Female
Homozygote
Humans
Hypobetalipoproteinemias
Middle Aged
Mutation
Sequence Deletion
Vitamin E

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