Identification and functional analysis of novel SLC25A19 variants causing thiamine metabolism dysfunction syndrome 4.
鉴定和功能分析导致硫胺素代谢功能障碍综合征 4 的新型 SLC25A19 变异体
期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-021-02028-4
Chen Yuanying, Fang Boliang, Hu Xuyun, Guo Ruolan, Guo Jun, Fang Kenan, Ni Jingwen, Li Wei, Qian Suyun, Hao Chanjuan