Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders
评估靶向重测序检测作为溶酶体贮积症诊断辅助工具的效果
期刊:Orphanet Journal of Rare Diseases
影响因子:3.4
doi:10.1186/1750-1172-9-59
Ana Fernández-Marmiesse, Marcos Morey, Merce Pineda, Jesús Eiris, Maria Luz Couce, Manuel Castro-Gago, Jose Maria Fraga, Lucia Lacerda, Sofia Gouveia, Maria Socorro Pérez-Poyato, Judith Armstrong, Daisy Castiñeiras, Jose A Cocho
