Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome.
土耳其一个患有隐性共济失调综合征的家庭中,CWF19L1基因存在纯合剪接突变
期刊:Neurology
影响因子:8.5
doi:10.1212/WNL.0000000000001053
Burns Randi, Majczenko Karen, Xu Jishu, Peng Weiping, Yapici Zuhal, Dowling James J, Li Jun Z, Burmeister Margit