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Article

Evidence for a third genetic locus causing familial hypercholesterolemia. A non-LDLR, non-APOB kindred.

Journal of lipid research - 1 Jun 1999

Haddad L, Day I N, Hunt S, Williams R R, Humphries S E, Hopkins P N

Abstract excerpt

Monogenically inherited hypercholesterolemia is most commonly caused by mutations at the low density lipoprotein receptor (LDLR) locus causing familial hypercholesterolemia (FH) or at the apolipoprotein B (APOB) locus causing the disorder familial defective apoB (FDB). Probands from 47 kindreds with a strict clinical diagnosis of FH were selected from the Cardiovascular Genetics Research Lipid Clinic, Utah, for...

Read the complete abstract on PubMed

Topics

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Share to Apolipoproteins B
Share to Genetic Linkage
Share to Hypercholesterolemia

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Microsatellite Repeats

Share to Pedigree

Share to Polymorphism, Single-Stranded Conformational

Share to Receptors, LDL

Share to Sequence Analysis, DNA

Source

Identifiers

PMID: 10357843

Genes

LDLR
APOB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Evidence for a third genetic locus causing familial hypercholesterolemia. A non-LDLR, non-APOB kindred.PMID 10357843Read ↗

No genetic linkage or molecular evidence for involvement of the PCSK9, ARH or CYP7A1 genes in the Familial Hypercholesterolemia phenotype in a sample of Danish families without pathogenic mutations in the LDL receptor and apoB genes.Semantic proximity Read ↗

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Genetic Localization to Chromosome 1p32 of the Third Locus for Familial Hypercholesterolemia in a Utah KindredSemantic proximity Read ↗

Replication of linkage of familial hypobetalipoproteinemia to chromosome 3p in six kindreds.Semantic proximity Read ↗

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Familial defective apolipoprotein B-100: a common cause of primary hypercholesterolemia.Semantic proximity Read ↗

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