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...

ver descrição completa

Detalhes bibliográficos

Publicado no:	Nucleic Acids Res
Principais autores:	Varret, M, Rabès, J P, Collod-Béroud, G, Junien, C, Boileau, C, Béroud, C
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Oxford University Press 1997
Assuntos:	Research Article
Acesso em linha:	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
Tags:	Adicionar Tag Sem tags, seja o primeiro a adicionar uma tag!