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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Bibliografiska uppgifter

I publikationen:	Nucleic Acids Res
Huvudupphov:	Varret, M, Rabès, J P, Collod-Béroud, G, Junien, C, Boileau, C, Béroud, C
Materialtyp:	Artigo
Språk:	Inglês
Utgiven:	Oxford University Press 1997
Ämnen:	Research Article
Länkar:	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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