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.

Detalles Bibliográficos
Autores principales: Agarwal, Sonika, Emrick, Lisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pediatric Neurology Briefs Publishers 2015
Materias:
Cerebellar Ataxias
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
Descripción
Sumario: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.

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