The characteristics and biological significance of NPC2: Mutation and disease
Abstract
Niemann-Pick C disease (NPC) is a rare autosomal recessive disorder characterized by severe neurodegeneration of central nervous system. Linkage studies in multiplex NPC families and genetic complementation research revealed two disease genes, NPC1 and NPC2, both of which are important transporters …
Keywords
National Center for Biotechnology Information
NCBI
NLM
MEDLINE
review
animals
humans
pubmed abstract
nih
national institutes of health
national library of medicine
research support
non-u.s. gov't
qian zhang
pmid:31843136
doi:10.1016/j.mrrev.2019.108284
yanan xu
yong zhao
mutation / genetics*
niemann-pick diseases / genetics*
protein transport / genetics
vesicular transport proteins / genetics*
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118420
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