Wird geladen...
Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease
Niemann Pick disease type C (NPC) is a neurovisceral disorder due to mutations in NPC1 or NPC2. This review focuses on poorly characterized clinical and molecular features of early infantile form of NPC (EIF) and identified 89 cases caused by NPC1 (NPC1) and 16 by NPC2 (NPC2) mutations. Extra-neuron...
Gespeichert in:
| Veröffentlicht in: | Int J Mol Sci |
|---|---|
| Hauptverfasser: | , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
MDPI
2020
|
| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7404201/ https://ncbi.nlm.nih.gov/pubmed/32709131 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms21145059 |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|