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Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation

Inherited peripheral neuropathies (IPNs) are a clinically and genetically heterogeneous group of diseases affecting the motor and sensory peripheral nerves. IPNs have benefited from gene discovery and genetic diagnosis using next‐generation sequencing with over 80 causative genes available for testi...

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Detalles Bibliográficos
Autores principales: Cutrupi, Anthony N., Brewer, Megan H., Nicholson, Garth A., Kennerson, Marina L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6014456/
https://www.ncbi.nlm.nih.gov/pubmed/29573232
http://dx.doi.org/10.1002/mgg3.390