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Screening for PRX mutations in a large Chinese Charcot-Marie-Tooth disease cohort and literature review
BACKGROUND: Periaxins (encoded by PRX) play an important role in the stabilization of peripheral nerve myelin. Mutations in PRX can lead to Charcot-Marie-Tooth disease type 4F (CMT4F). METHODS: In this study, we screened for PRX mutations using next-generation sequencing and whole-exome sequencing i...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10352492/ https://www.ncbi.nlm.nih.gov/pubmed/37470010 http://dx.doi.org/10.3389/fneur.2023.1148044 |