Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia
对12.5 Mb纯合区域进行靶向二代测序,揭示了常染色体隐性小脑共济失调患者的ANO10基因突变。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2010.10.015
Vermeer, Sascha; Hoischen, Alexander; Meijer, Rowdy P P; Gilissen, Christian; Neveling, Kornelia; Wieskamp, Nienke; de Brouwer, Arjan; Koenig, Michel; Anheim, Mathieu; Assoum, Mirna; Drouot, Nathalie; Todorovic, Slobodanka; Milic-Rasic, Vedrana; Lochmüller, Hanns; Stevanin, Giovanni; Goizet, Cyril; David, Albert; Durr, Alexandra; Brice, Alexis; Kremer, Berry; van de Warrenburg, Bart P C; Schijvenaars, Mascha M V A P; Heister, Angelien; Kwint, Michael; Arts, Peer; van der Wijst, Jenny; Veltman, Joris; Kamsteeg, Erik-Jan; Scheffer, Hans; Knoers, Nine