Imen Dorboz, Hélène Dumay-Odelot, Karima Boussaid, yosra Bouyacoub, Pauline Barreau, et al.. Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation.
Neurology Genetics, American Academy of Neurology, 2018, 4 (6), pp.e289.
⟨10.1212/nxg.0000000000000289⟩.
⟨pasteur-02000258⟩