A carregar...

Endoplasmic reticulum quality control of LDLR variants associated with familial hypercholesterolemia

Loss‐of‐function mutations in the low‐density lipoprotein receptor (LDLR) gene can cause familial hypercholesterolemia (FH), but detailed functional evidence for pathogenicity is limited to a few reported mutations. Here, we investigated the cellular pathogenic mechanisms of three mutations in LDLR...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:FEBS Open Bio
Main Authors: Kizhakkedath, Praseetha, John, Anne, Al‐Sawafi, Buthaina K., Al‐Gazali, Lihadh, Ali, Bassam R.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6823279/
https://ncbi.nlm.nih.gov/pubmed/31587492
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/2211-5463.12740
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!