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Myelin protein zero mutations and the unfolded protein response in Charcot Marie Tooth disease type 1B
OBJECTIVE: To determine the prevalence of MPZ mutations that cause Charcot Marie Tooth neuropathy type 1B (CMT1B) and activate the unfolded protein Response (UPR). BACKGROUND: CMT1B is caused by >200 heterozygous mutations in MPZ, the major protein in peripheral nerve myelin. Mutations Ser63del M...
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Publicado no: | Ann Clin Transl Neurol |
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Main Authors: | , , , , , , , |
Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
John Wiley and Sons Inc.
2018
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5899917/ https://ncbi.nlm.nih.gov/pubmed/29687021 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.543 |
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