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PMP22 exon 4 deletion causes ER retention of PMP22 and a gain‐of‐function allele in CMT1E
OBJECTIVE: To determine whether predicted fork stalling and template switching (FoSTeS) during mitosis deletes exon 4 in peripheral myelin protein 22 KD (PMP22) and causes gain‐of‐function mutation associated with peripheral neuropathy in a family with Charcot–Marie–Tooth disease type 1E. METHODS: T...
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| Publicat a: | Ann Clin Transl Neurol |
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| Autors principals: | , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
John Wiley and Sons Inc.
2017
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5376752/ https://ncbi.nlm.nih.gov/pubmed/28382305 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.395 |
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