Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability

BACKGROUND: Inherited peripheral neuropathy (IPN) is a clinically and genetically heterogeneous group of disorders with more than 90 genes associated with the different subtypes. Sequential gene screening is gradually being replaced by next generation sequencing (NGS) applications. METHODS: We desig...

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Detalles Bibliográficos
Autores principales: Antoniadi, Thalia, Buxton, Chris, Dennis, Gemma, Forrester, Natalie, Smith, Debbie, Lunt, Peter, Burton-Jones, Sarah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4578331/
https://www.ncbi.nlm.nih.gov/pubmed/26392352
http://dx.doi.org/10.1186/s12881-015-0224-8

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