NPC-db, a Niemann-Pick type C disease gene variation database
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference24 articles.
1. NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes
2. Adult onset Niemann-Pick type C disease: A clinical, neuroimaging and molecular genetic study
3. Niemann-Pick C1 Disease Gene: Homology to Mediators of Cholesterol Homeostasis
4. Proof of “disease causing” mutation
5. A survey of locus-specific database curation
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4. The Niemann-Pick type diseases – A synopsis of inborn errors in sphingolipid and cholesterol metabolism;Progress in Lipid Research;2023-04
5. Efficacy and safety of arimoclomol in Niemann‐Pick disease type C: Results from a double‐blind, randomised, placebo‐controlled, multinational phase 2/3 trial of a novel treatment;Journal of Inherited Metabolic Disease;2021-09-07
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