Novel POLR1C mutation in RNA polymerase III-related leukodystrophy with severe myoclonus and dystonia
RNA聚合酶III相关脑白质营养不良伴严重肌阵挛和肌张力障碍中的新型POLR1C突变
期刊:Molecular Genetics & Genomic Medicine
影响因子:1.6
doi:10.1002/mgg3.914
Kraoua, Ichraf; Karkar, Adnane; Drissi, Cyrine; Benrhouma, Hanene; Klaa, Hedia; Samaan, Simon; Renaldo, Florence; Elmaleh, Monique; Ben Hamouda, Mohamed; Abdelhak, Sonia; Boespflug-Tanguy, Odile; Ben Youssef-Turki, Ilfghem; Dorboz, Imen