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...
| Autori principali: | , , , , , , , , , , |
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| Natura: | Journal article |
| Pubblicazione: |
MDPI
2019
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