title: Software and database for the analysis of mutations in the human LDL receptor gene.
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.
authors.affiliation: INSERM U383, Hôpital Necker-Enfants Malades, Université René Descartes, Paris V, 149-161 rue de Sèvres, 75743 Paris Cedex 15, France.
authors.forename: M
authors.initials: M
authors.lastname: Varret
authors.forename: J P
authors.initials: JP
authors.lastname: Rabès
authors.forename: G
authors.initials: G
authors.lastname: Collod-Béroud
authors.forename: C
authors.initials: C
authors.lastname: Junien
authors.forename: C
authors.initials: C
authors.lastname: Boileau
authors.forename: C
authors.initials: C
authors.lastname: Béroud
mesh_terms: D001483:Base Sequence; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics; D016208:Databases, Factual; D005796:Genes; D005838:Genotype; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D011973:Receptors, LDL / Q000235:genetics*; D012984:Software
chemical_list: D011973:Receptors, LDL