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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Bibliografske podrobnosti

izdano v:	Nucleic Acids Res
Principais autores:	Varret, M, Rabès, J P, Collod-Béroud, G, Junien, C, Boileau, C, Béroud, C
Format:	Artigo
Jezik:	Inglês
Izdano:	Oxford University Press 1997
Teme:	Research Article
Online dostop:	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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