Sib-pair analysis detects elevated Lp(a) levels and large variation of Lp(a) concentration in subjects with familial defective ApoB.

doi:10.1172/JCI119402

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Article

Sib-pair analysis detects elevated Lp(a) levels and large variation of Lp(a) concentration in subjects with familial defective ApoB.

The Journal of clinical investigation - 1 May 1997

van der Hoek Y Y, Lingenhel A, Kraft H G, Defesche J C, Kastelein J J, Utermann G

Abstract excerpt

Whether or not Lp(a) plasma levels are affected by the apoB R3500Q mutation, which causes Familial Defective apoB (FDB), is still a matter of debate. We have analyzed 300 family members of 13 unrelated Dutch index patients for the apoB mutation and the apolipoprotein(a) [apo(a)] genotype. Total c...

Topics

Adult
Aged
Alleles
Apolipoprotein B-100
Apolipoproteins A
Apolipoproteins B
Cholesterol
Cholesterol, LDL
DNA
Electrophoresis, Gel, Pulsed-Field
Female
Genetic Variation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Hypercholesterolemia

Lipoprotein(a)

Male

Middle Aged

Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 9151801
DOI: 10.1172/JCI119402
PMCID: PMC508059

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9151801-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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