| 1 | HLD11, POLR1C |
| Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. | |
| Thiffault I, Wolf NI, Forget D, Guerrero K, Tran LT, Choquet K, Lavallée-Adam M, Poitras C, Brais B, Yoon G, Sztriha L, Webster RI, Timmann D, van de Warrenburg BP, Seeger J, Zimmermann A, Máté A, Goizet C, Fung E, van der Knaap MS, Fribourg S, Vanderver A, Simons C, Taft RJ, Yates JR 3rd, Coulombe B, Bernard G. | |
| Nat Commun 6:7623. doi: 10.1038/ncomms8623. 2015 | |