| 1 | ACCAL, POLR1A |
| Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A | |
| Kara B, Köroğlu Ç, Peltonen K, Steinberg RC, Maraş Genç H, Hölttä-Vuori M, Güven A, Kanerva K, Kotil T, Solakoğlu S, Zhou Y, Olkkonen VM, Ikonen E, Laiho M, Tolun A. | |
| Eur J Hum Genet. Feb;25(3):315-323. doi: 10.1038/ejhg.2016.183. Epub 2017 Jan 4. 2017 | |