Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy

OBJECTIVE: To assess the efficiency of target-enrichment next-generation sequencing (NGS) with copy number assessment in inherited neuropathy diagnosis. METHODS: A 197 polyneuropathy gene panel was designed to assess for mutations in 93 patients with inherited or idiopathic neuropathy without known...

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Detalhes bibliográficos
Publicado no:Neurology
Main Authors: Wang, Wei, Wang, Chen, Dawson, D. Brian, Thorland, Erik C., Lundquist, Patrick A., Eckloff, Bruce W., Wu, Yanhong, Baheti, Saurabh, Evans, Jared M., Scherer, Steven S., Dyck, Peter J., Klein, Christopher J.
Formato: Artigo
Idioma:Inglês
Publicado em: Lippincott Williams & Wilkins 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4862246/
https://ncbi.nlm.nih.gov/pubmed/27164712
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000002659
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