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Article

Mutations in the low-density-lipoprotein receptor gene in German patients with familial hypercholesterolaemia.

Journal of inherited metabolic disease - 1 Dec 2000

Weiss N, Binder G, Keller C

Abstract excerpt

Familial hypercholesterolaemia (FH) is an autosomal dominant disorder of lipid metabolism characterized by elevated low-density lipoproteins (LDL), the formation of tendon and skin xanthomata and the development of premature coronary atherosclerosis. It is caused by a defect in the receptor-mediated hepatic uptake of LDL due to mutations in the LDL receptor. In 25 FH families with a total of 160 members and in...

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

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Source

Identifiers

PMID: 11196104
DOI: 10.1023/a:1026704517598

Genes

FH

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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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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Mutations in the low-density-lipoprotein receptor gene in German patients with familial hypercholesterolaemia.PMID 11196104Read ↗

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