Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation

por 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
Publicado 2018