Software and database for the analysis of mutations in the human LDL receptor gene.
AUTOR(ES)
Varret, M
RESUMO
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.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=146377Documentos Relacionados
- Software and database for the analysis of mutations in the human FBN1 gene.
- Software and database for the analysis of mutations in the human WT1 gene.
- Database and software for the analysis of mutations at the human hprt gene.
- Software and database for the analysis of mutations in the VHL gene.
- Database and software for the analysis of mutations at the human p53 gene.
