@article{dorboz:pasteur-02000258, TITLE = {{Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation}}, AUTHOR = {Dorboz, Imen and Dumay-Odelot, H{\'e}l{\`e}ne and Boussaid, Karima and Bouyacoub, Yosra and Barreau, Pauline and Samaan, Simon and Jmel, Haifa and Eymard-Pierre, El{\'e}onore and Cances, Claude and Bar, C{\'e}line and Poulat, Anne-Lise and Rousselle, Christophe and Renaldo, Florence and Elmaleh- Berg{\`e}s, Monique and Teichmann, Martin and Boespflug-Tanguy, Odile}, URL = {https://riip.hal.science/pasteur-02000258}, JOURNAL = {{Neurology Genetics}}, PUBLISHER = {{American Academy of Neurology}}, VOLUME = {4}, NUMBER = {6}, PAGES = {e289}, YEAR = {2018}, MONTH = Dec, DOI = {10.1212/nxg.0000000000000289}, PDF = {https://riip.hal.science/pasteur-02000258/file/Mutation.pdf}, HAL_ID = {pasteur-02000258}, HAL_VERSION = {v1}, }