A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy
伊拉克一个患有癫痫性脑病的家族中发现了一种由Alu/Alu介导的重排产生的SLC13A5基因全缺失的新型纯合子突变。
期刊:American Journal of Medical Genetics Part A
影响因子:1.7
doi:10.1002/ajmg.a.62192
Duan, Ruizhi; Saadi, Nebal Waill; Grochowski, Christopher M; Bhadila, Ghalia; Faridoun, Afnan; Mitani, Tadahiro; Du, Haowei; Fatih, Jawid M; Jhangiani, Shalini N; Akdemir, Zeynep C; Gibbs, Richard A; Pehlivan, Davut; Posey, Jennifer E; Marafi, Dana; Lupski, James R