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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...

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Detalles Bibliográficos
Autores principales:	Laššuthová, Petra, Šafka Brožková, Dana, Krůtová, Marcela, Neupauerová, Jana, Haberlová, Jana, Mazanec, Radim, Dřímal, Pavel, Seeman, Pavel
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2016
Materias:	Research
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

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