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Article

Use of DNA haplotype analysis in diagnosis of familial hypercholesterolaemia in 31 German families.

Journal of medical genetics - 1 Dec 1991

Schuster H, Rauh G, Gerl C, Keller C, Wolfram G, Zöllner N

Abstract excerpt

In the majority of patients, familial hypercholesterolaemia (FH) is caused by different mutations affecting the well defined low density lipoprotein receptor (LDLR) gene. However, 3% of patients in Munich with a clinical diagnosis of FH have a particular mutation in the apolipoprotein B gene causing familial defective apolipoprotein B-100 (FDB). To date none of the LDLR mutations causing FH in German patients has...

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

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Source

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Identifiers

PMID: 1684620
DOI: 10.1136/jmg.28.12.865
PMCID: PMC1017165

Genes

LDLR

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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