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P0S63del impedes the arrival of wild-type P0 glycoprotein to myelin in CMT1B mice
More than 120 mutations in the Myelin Protein Zero gene (MPZ, P0) cause various forms of hereditary neuropathy. Two human mutations encoding either P0S63C or P0S63del have been shown to cause demyelination in mice through different gain of function pathomechanisms. P0S63del, for example, is retained...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Oxford University Press
2011
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3090187/ https://ncbi.nlm.nih.gov/pubmed/21363884 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddr081 |
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