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Molecular mechanisms of Charcot-Marie-Tooth neuropathy linked to mutations in human myelin protein P2
Charcot-Marie-Tooth (CMT) disease is one of the most common inherited neuropathies. Recently, three CMT1-associated point mutations (I43N, T51P, and I52T) were discovered in the abundant peripheral myelin protein P2. These mutations trigger abnormal myelin structure, leading to reduced nerve conduct...
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| Udgivet i: | Sci Rep |
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| Main Authors: | , , , , , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Nature Publishing Group UK
2017
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5529448/ https://ncbi.nlm.nih.gov/pubmed/28747762 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-06781-0 |
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