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De Novo Mutations in Patients with Ataxic CP
As a part of a large study investigating childhood ataxias in the UK and Switzerland, Schnekenberg et al. analyzed the genetic associations with congenital cerebellar ataxia in 10 patients using either a targeted next generation sequencing panel of 118 genes or trio-based exome sequencing.
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Pediatric Neurology Briefs Publishers
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4747133/ https://www.ncbi.nlm.nih.gov/pubmed/26933599 http://dx.doi.org/10.15844/pedneurbriefs-29-8-5 |