Targeted Next-Generation Sequencing of a 12.5 Mb Homozygous Region Reveals ANO10 Mutations in Patients with Autosomal-Recessive Cerebellar Ataxia

✍ Scribed by Sascha Vermeer; Alexander Hoischen; Rowdy P.P. Meijer; Christian Gilissen; Kornelia Neveling; Nienke Wieskamp; Arjan de Brouwer; Michel Koenig; Mathieu Anheim; Mirna Assoum; Nathalie Drouot; Slobodanka Todorovic; Vedrana Milic-Rasic; Hanns Lochmüller; Giovanni Stevanin; Cyril Goizet; Albert David; Alexandra Durr; Alexis Brice; Berry Kremer; Bart P.C. van de Warrenburg; Mascha M.V.A.P. Schijvenaars; Angelien Heister; Michael Kwint; Peer Arts; Jenny van der Wijst; Joris Veltman; Erik-Jan Kamsteeg; Hans Scheffer; Nine Knoers

• Book ID: 113422943
• Publisher: American Society of Human Genetics
• Year: 2010
• Tongue: English
• Weight: 530 KB
• Volume: 87
• Category: Article
• ISSN: 0002-9297
• DOI: 10.1016/j.ajhg.2010.10.015