NPC1 Deficiency in Mice is Associated with Fetal Growth Restriction, Neonatal Lethality and Abnormal Lung Pathology

The rare lysosomal storage disorder Niemann-Pick disease type C1 (NPC1) arises from mutation of NPC1, which encodes a lysosomal transmembrane protein essential for normal transport and trafficking of cholesterol and sphingolipids. NPC1 is highly heterogeneous in both clinical phenotypes and age of o...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:J Clin Med
Main Authors: Rodriguez-Gil, Jorge L., Watkins-Chow, Dawn E., Baxter, Laura L., Yokoyama, Tadafumi, Zerfas, Patricia M., Starost, Matthew F., Gahl, William A., Malicdan, May Christine V., Porter, Forbes D., Platt, Frances M., Pavan, William J.
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2019
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7019814/
https://ncbi.nlm.nih.gov/pubmed/31861571
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/jcm9010012
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados