Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity
DARS基因突变会导致髓鞘形成不足,累及脑干和脊髓,并引起腿部痉挛。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2013.04.006
Taft, Ryan J; Vanderver, Adeline; Leventer, Richard J; Damiani, Stephen A; Simons, Cas; Grimmond, Sean M; Miller, David; Schmidt, Johanna; Lockhart, Paul J; Pope, Kate; Ru, Kelin; Crawford, Joanna; Rosser, Tena; de Coo, Irenaeus F M; Juneja, Monica; Verma, Ishwar C; Prabhakar, Prab; Blaser, Susan; Raiman, Julian; Pouwels, Petra J W; Bevova, Marianna R; Abbink, Truus E M; van der Knaap, Marjo S; Wolf, Nicole I