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Direct relationship between increased expression and mistrafficking of the Charcot–Marie–Tooth–associated protein PMP22

Charcot–Marie–Tooth disease (CMT) is a neuropathy of the peripheral nervous system that afflicts ∼1:2500 people. The most common form of this disease (CMT1A, 1:4000) is associated with duplication of chromosome fragment 17p11.2-12, which results in a third WT PMP22 allele. In rodent models overexpre...

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Detalhes bibliográficos
Publicado no:J Biol Chem
Main Authors: Marinko, Justin T., Carter, Bruce D., Sanders, Charles R.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Biochemistry and Molecular Biology 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7443497/
https://ncbi.nlm.nih.gov/pubmed/32647009
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.AC120.014940
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