De Novo Mutations in Patients with Ataxic CP

• Auteurs principaux: Sonika Agarwal (Auteur), Lisa Emrick (Auteur)
• Format: Livre
• Publié: Pediatric Neurology Briefs Publishers, 2015-09-01T00:00:00Z.
• Sujets: article
• Accès en ligne: Connect to this object online.

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.