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...

সম্পূর্ণ বিবরণ

গ্রন্থ-পঞ্জীর বিবরন
প্রধান লেখক: Rodriguez-Gil, J, Watkins-Chow, D, Baxter, L, Yokoyama, T, Zerfas, P, Starost, M, Gahl, W, Malicdan, M, Porter, F, Platt, F, Paven, W
বিন্যাস: Journal article
প্রকাশিত: MDPI 2019

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