Novel Nonsense Mutation in SLC39A13 Initially Presenting as Myopathy: Case Report and Review of the Literature
SLC39A13基因中一种新的无义突变最初表现为肌病:病例报告及文献综述
期刊:Molecular Syndromology
影响因子:0.9
doi:10.1159/000485881
Dusanic, Maja; Dekomien, Gabriele; Lücke, Thomas; Vorgerd, Matthias; Weis, Joachim; Epplen, Joerg T; Köhler, Cornelia; Hoffjan, Sabine