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Characterization of a Spontaneous Novel Mutation in the NPC2 Gene in a Cat Affected by Niemann Pick Type C Disease
Niemann-Pick C disease (NPC) is an autosomal recessive lysosomal storage disorder characterized by accumulation of unesterified cholesterol and other lipids within the lysosomes due to mutation in NPC1 or NPC2 genes. A feline model of NPC carrying a mutation in NPC1 gene has been previously describe...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | PLoS One |
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| Κύριοι συγγραφείς: | , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Public Library of Science
2014
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4232374/ https://ncbi.nlm.nih.gov/pubmed/25396745 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0112503 |
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