Variable expression of the mutation in familial defective apolipoprotein B-100.
Arterioscler Thromb
; 13(7): 973-6, 1993 Jul.
Article
em En
| MEDLINE
| ID: mdl-8318514
ABSTRACT
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 study of this family are compatible with a major genetic contribution to the normocholesterolemia in the two heterozygotes. However, our findings are not compatible with inheritance of a variant normal allele at the apolipoprotein B locus in this family that neutralizes the effect of an FDB allele on the plasma LDL level. Polymorphic variations at the apolipoprotein E and LDL receptor loci did not explain the presence of normal LDL levels in the two heterozygous FDB subjects.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Apolipoproteínas B
/
Erros Inatos do Metabolismo Lipídico
/
Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Adult
/
Child
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Arterioscler Thromb
Assunto da revista:
ANGIOLOGIA
Ano de publicação:
1993
Tipo de documento:
Article
País de afiliação:
Reino Unido