A single homozygous point mutation in a 3'untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy
硒蛋白N mRNA 3'非翻译区基序中的单个纯合点突变会导致SEPN1相关肌病。
期刊:EMBO Reports
影响因子:6.2
doi:10.1038/sj.embor.7400648
Allamand, Valérie; Richard, Pascale; Lescure, Alain; Ledeuil, Céline; Desjardin, Delphine; Petit, Nathalie; Gartioux, Corine; Ferreiro, Ana; Krol, Alain; Pellegrini, Nadine; Urtizberea, J Andoni; Guicheney, Pascale