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Article

The UMD-LDLR database: additions to the software and 490 new entries to the database.

Human mutation - 1 Aug 2002

Villéger Ludovic, Abifadel Marianne, Allard Delphine, Rabès Jean-Pierre, Thiart Rochelle, Kotze Maritha J, Béroud Christophe, Junien Claudine, Boileau Catherine, Varret Mathilde

Abstract excerpt

Mutations in the LDL receptor gene (LDLR) cause familial hypercholesterolemia (FH), one of the most frequent hereditary dominant disorders. The protein defect was identified in 1973, the gene was localized by in situ hybridization in 1985, and since, a growing number of mutations have been reported. The UMD-LDLR database is customized software that has been developed to list all mutations, and also to provide...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 12124988
DOI: 10.1002/humu.10102

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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