NPC1 deficiency in mice is associated with fetal growth restriction, neonatal lethality and abnormal
lung pathology

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...

Полное описание

Библиографические подробности
Главные авторы:	Rodriguez-Gil, J, Watkins-Chow, D, Baxter, L, Yokoyama, T, Zerfas, P, Starost, M, Gahl, W, Malicdan, M, Porter, F, Platt, F, Paven, W
Формат:	Journal article
Опубликовано:	MDPI 2019

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