The characteristics and biological significance of NPC2: Mutation and disease

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ID: 118420
1970
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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 …
Reference Key
y1970mutationthe Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Xu Y;Zhang Q;Tan L;Xie X;Zhao Y;;
Journal mutation research
Year 1970
DOI
DOI not found
URL
https://www.pubmed.gov/31843136/
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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