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Improving diagnosis of inherited peripheral neuropathies through gene panel analysis
BACKGROUND: Inherited peripheral neuropathies (IPN) are the most common inherited neurological condition. It represents a highly heterogeneous group, both clinically and genetically. Targeted disease specific gene panel massively parallel sequencing (MPS) seems to be a useful tool in diagnosis of di...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4994270/ https://www.ncbi.nlm.nih.gov/pubmed/27549087 http://dx.doi.org/10.1186/s13023-016-0500-5 |