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Molecular structure of human TFIIH.
Schultz P, Fribourg S, Poterszman A, Mallouh V, Moras D, Egly JM. Schultz P, et al. Among authors: fribourg s. Cell. 2000 Sep 1;102(5):599-607. doi: 10.1016/s0092-8674(00)00082-9. Cell. 2000. PMID: 11007478
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. Thiffault I, et al. Among authors: fribourg s. Nat Commun. 2015 Jul 7;6:7623. doi: 10.1038/ncomms8623. Nat Commun. 2015. PMID: 26151409 Free PMC article.
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