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Article

Clinically applicable mutation screening in familial hypercholesterolemia.

Human mutation - 1 Jan 1996

Nissen H, Guldberg P, Hansen A B, Petersen N E, Hørder M

Abstract excerpt

Mutations in the LDL receptor (LDLR) gene and the codon 3500 region of the apolipoprotein (apo) B-100 gene result in the clinically indistinguishable phenotypes designated familial hypercholesterolemia (FH) and familial defective apo B-100 (FDB), respectively. Introduction of genetic diagnosis in phenotypic FH families may remove the diagnostic inaccuracies known from traditional clinical/biochemical FH diagnosis...

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Source

Identifiers

PMID: 8844215
DOI: 10.1002/(SICI)1098-1004(1996)8:2<168::AID-HUMU9>3.0.CO;2-7

Genes

LDLR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Clinically applicable mutation screening in familial hypercholesterolemia.PMID 8844215Read ↗

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Use of the denaturing gradient gel electrophoresis (DGGE) method for mutational screening of patients with familial hypercholesterolaemia (FH) and Familial defective apolipoprotein B100 (FDB).Semantic proximity Read ↗

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Cutoff point separating affected and unaffected familial hypercholesterolemic patients validated by LDL-receptor gene mutants.Semantic proximity Read ↗

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Evaluation of clinical diagnosis criteria of familial ligand defective apoB 100 and lipoprotein phenotype comparison between LDL receptor gene mutations affecting ligand-binding domain and the R3500Q mutation of the apoB gene in patients from a South European population.Semantic proximity Read ↗

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