Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation
POLR3K基因突变会导致髓鞘形成不足性脑白质营养不良和核糖体RNA调控异常。
期刊:Neurology-Genetics
影响因子:3.7
doi:10.1212/NXG.0000000000000289
Dorboz, Imen; Dumay-Odelot, Hélene; Boussaid, Karima; Bouyacoub, Yosra; Barreau, Pauline; Samaan, Simon; Jmel, Haifa; Eymard-Pierre, Eleonore; Cances, Claude; Bar, Céline; Poulat, Anne-Lise; Rousselle, Christophe; Renaldo, Florence; Elmaleh-Bergès, Monique; Teichmann, Martin; Boespflug-Tanguy, Odile