TitleSoftware and database for the analysis of mutations in the human LDL receptor gene.
Publication TypeJournal Article
Year of Publication1997
AuthorsVarret M, Rabés JP, Collod-Beroud G, Junien C, Boileau C, Béroud C
JournalNucleic acids research
Volume25
Pagination172–180
Date Publishedjan
Abstract

The low-density lipoprotein receptor (LDLr) plays a pivotal role in cholesterol homeostasis. Mutations in the LDLr gene (LDLR), which is located on chromosome 19, cause familial hypercholesterolemia (FH), an autosomal dominant disorder characterized by severe hypercholesterolemia associated with premature coronary atherosclerosis. To date almost 300 mutations have been identified in the LDLR gene. To facilitate the mutational analysis of the LDLR gene, and promote the analysis of the relationship between genotype and phenotype, a software package along with a computerized database (currently listing 210 entries) have been created.

URLhttp://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=9016531&retmode=ref&cmd=prlinks
PubMed ID9016531
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