Nucleic Acids Research, Vol 25, Issue 1 172-180, Copyright © 1997 by Oxford University Press
M Varret, JP Rabes, G Collod-Beroud, C Junien, C Boileau and C Beroud
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.
ARTICLES
Software and database for the analysis of mutations in the human LDL receptor gene
INSERM U383, Hopital Necker-Enfants Malades, Universite Rene Descartes, Paris V, 149-161 rue de Sevres, 75743 Paris Cedex 15, France.
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