Skip to Main content Skip to Navigation
Journal articles

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.
Complete list of metadatas

Cited literature [53 references]  Display  Hide  Download

https://www.hal.inserm.fr/inserm-00143593
Contributor : Gwenaëlle Collod-Beroud <>
Submitted on : Wednesday, December 20, 2017 - 7:08:29 PM
Last modification on : Wednesday, August 19, 2020 - 11:17:33 AM

File

 Restricted access
To satisfy the distribution rights of the publisher, the document is embargoed until : jamais

Please log in to resquest access to the document

Identifiers

Collections

Citation

Mathilde Varret, Jean-Pierre Rabès, Gwenaëlle Collod-Béroud, Claudine Junien, Catherine Boileau, et al.. Software and database for the analysis of mutations in the human LDL receptor gene.. Nucleic Acids Research, Oxford University Press, 1997, 25 (1), pp.172-80. ⟨inserm-00143593⟩

Share

Metrics

Record views

206