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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. Kara B, et al. Eur J Hum Genet. 2017 Feb;25(3):315-323. doi: 10.1038/ejhg.2016.183. Epub 2017 Jan 4. Eur J Hum Genet. 2017. PMID: 28051070 Free PMC article.
Novel Assay to Detect RNA Polymerase I Activity In Vivo.
Guner G, Sirajuddin P, Zheng Q, Bai B, Brodie A, Liu H, Af Hällström T, Kulac I, Laiho M, De Marzo AM. Guner G, et al. Mol Cancer Res. 2017 May;15(5):577-584. doi: 10.1158/1541-7786.MCR-16-0246. Epub 2017 Jan 23. Mol Cancer Res. 2017. PMID: 28119429 Free PMC article.