Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients

Duplication and deletion of the peripheral myelin protein 22 (PMP22) gene cause Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP), respectively, while point mutations or small insertions and deletions (indels) usually cause CMT type 1E (C...

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Detalles Bibliográficos
Autores principales: Jung, Na Young, Kwon, Hye Mi, Nam, Da Eun, Tamanna, Nasrin, Lee, Ah Jin, Kim, Sang Beom, Choi, Byung-Ok, Chung, Ki Wha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9321036/
https://www.ncbi.nlm.nih.gov/pubmed/35886002
http://dx.doi.org/10.3390/genes13071219

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