Variable expression of the mutation in familial defective apolipoprotein B-100.

doi:10.1161/01.atv.13.7.973

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Article

Variable expression of the mutation in familial defective apolipoprotein B-100.

Arteriosclerosis and thrombosis : a journal of vascular biology - 1 Jul 1993

Gallagher J J, Myant N B

Abstract excerpt

Although most subjects with familial defective apolipoprotein B-100 (FDB) have raised plasma low-density lipoprotein (LDL) levels, a few have LDL levels within the normal range. We have previously identified two normocholesterolemic FDB heterozygotes in an affected family. Results obtained from a...

Topics

Adult
Apolipoprotein B-100
Apolipoproteins B
Child
Female
Gene Expression
Haploidy
Heterozygote
Humans
Lipid Metabolism, Inborn Errors
Male
Middle Aged
Mutation
Pedigree
Receptors, LDL

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