PMP22 exon 4 deletion causes ER retention of PMP22 and a gain‐of‐function allele in CMT1E

OBJECTIVE: To determine whether predicted fork stalling and template switching (FoSTeS) during mitosis deletes exon 4 in peripheral myelin protein 22 KD (PMP22) and causes gain‐of‐function mutation associated with peripheral neuropathy in a family with Charcot–Marie–Tooth disease type 1E. METHODS: T...

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Detalles Bibliográficos
Autores principales: Wang, David S., Wu, Xingyao, Bai, Yunhong, Zaidman, Craig, Grider, Tiffany, Kamholz, John, Lupski, James R., Connolly, Anne M., Shy, Michael E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5376752/
https://www.ncbi.nlm.nih.gov/pubmed/28382305
http://dx.doi.org/10.1002/acn3.395

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5376752/
https://www.ncbi.nlm.nih.gov/pubmed/28382305
http://dx.doi.org/10.1002/acn3.395

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