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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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Udgivet i:Nucleic Acids Res
Principais autores: Varret, M, Rabès, J P, Collod-Béroud, G, Junien, C, Boileau, C, Béroud, C
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 1997
Fag:
Research Article
Online adgang: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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