How T118M peripheral myelin protein 22 predisposes humans to Charcot–Marie–Tooth disease

Data from gnomAD indicate that a missense mutation encoding the T118M variation in human peripheral myelin protein 22 (PMP22) is found in roughly one of every 75 genomes of western European lineage (1:120 in the overall human population). It is unusual among PMP22 variants that cause Charcot–Marie–T...

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Detalles Bibliográficos
Autores principales: Stefanski, Katherine M., Li, Geoffrey C., Marinko, Justin T., Carter, Bruce D., Samuels, David C., Sanders, Charles R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Biochemistry and Molecular Biology 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9860121/
https://www.ncbi.nlm.nih.gov/pubmed/36581210
http://dx.doi.org/10.1016/j.jbc.2022.102839

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