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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Autors principals: Varret, M, Rabès, J P, Collod-Béroud, G, Junien, C, Boileau, C, Béroud, C
Format: Artigo
Idioma:Inglês
Publicat: 1997
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC146377/
https://ncbi.nlm.nih.gov/pubmed/9016531
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