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Article

Identification of the 408 valine to methionine mutation in the low density lipoprotein receptor in a German family with familial hypercholesterolemia.

Human genetics - 1 Apr 1993

Schuster H, Fischer H J, Keller C, Wolfram G, Zöllner N

Abstract excerpt

Familial hypercholesterolemia (FH) is caused by different mutations in the gene encoding the low density lipoprotein receptor (LDLR). In Caucasian patients, at least three single point mutations have been identified causing FH. The asparagine206 to glutamine, and valine408 to methionine mutations were originally described in Afrikaners and recently identified in Dutch FH patients. The proline664 to leucine...

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Source

Identifiers

PMID: 8478013
DOI: 10.1007/BF00218275

Genes

LDLR

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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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Identification of the 408 valine to methionine mutation in the low density lipoprotein receptor in a German family with familial hypercholesterolemia.PMID 8478013Read ↗

Identification of the valine 408 to methionine mutation in the LDL receptor in a Greek patient with homozygous familial hypercholesterolemia.Semantic proximity Read ↗

Identification of the 664 proline to leucine mutation in the low density lipoprotein receptor in four unrelated patients with familial hypercholesterolaemia in the UK.Semantic proximity Read ↗

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