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Software and database for the analysis of mutations in the human LDL receptor gene.

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 pre...

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Published in:Nucleic Acids Res
Main Authors: Varret, M, Rabès, J P, Collod-Béroud, G, Junien, C, Boileau, C, Béroud, C
Format: Artigo
Language:Inglês
Published: Oxford University Press 1997
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Research Article
Online Access:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC146377/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/9016531/
https://ncbi.nlm.nih.govhttps://doi.org/10.1093/nar/25.1.172
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