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A Novel Missense Mutation of CMT2P Alters Transcription Machinery
OBJECTIVE: Charcot-Marie-Tooth type 2P (CMT2P) has been associated with frame-shift mutations in the RING domain of LRSAM1 (an E3 ligase). This study describes families with a novel missense mutation of LRSAM1 gene and explores pathogenic mechanisms of CMT2P. METHODS: Patients with CMT2P were charac...
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| Veröffentlicht in: | Ann Neurol |
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| Hauptverfasser: | , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2016
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5177458/ https://ncbi.nlm.nih.gov/pubmed/27615052 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.24776 |
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