TY - GEN AU - Choquet,Karine AU - Pinard,Maxime AU - Yang,Sharon AU - Moir,Robyn D AU - Poitras,Christian AU - Dicaire,Marie-Josée AU - Sgarioto,Nicolas AU - Larivière,Roxanne AU - Kleinman,Claudia L AU - Willis,Ian M AU - Gauthier,Marie-Soleil AU - Coulombe,Benoit AU - Brais,Bernard TI - The leukodystrophy mutation Polr3b R103H causes homozygote mouse embryonic lethality and impairs RNA polymerase III biogenesis SN - 1756-6606 PY - 2020///0526 KW - Animals KW - Base Sequence KW - Embryo Loss KW - enzymology KW - Gene Expression Regulation, Enzymologic KW - Gene Knock-In Techniques KW - HEK293 Cells KW - Hereditary Central Nervous System Demyelinating Diseases KW - genetics KW - Homozygote KW - Humans KW - Mice, Inbred C57BL KW - Mice, Mutant Strains KW - Motor Activity KW - Mutation KW - Myelin Sheath KW - metabolism KW - RNA Polymerase III KW - RNA, Messenger N1 - Publication Type: Journal Article; Research Support, Non-U.S. Gov't UR - https://doi.org/10.1186/s13041-019-0479-7 ER -