1. Minnerop, Martina, Kurzwelly, Delia, Wagner, Holger, Ramirez, Alfredo, Schüle, Rebecca. . Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia. In Brain : a journal of neurology, 140, 1561-1578. doi:10.1093/brain/awx095. https://pubmed.ncbi.nlm.nih.gov/28459997/
2. Wolf, Nicole I, Vanderver, Adeline, van Spaendonk, Rosalina M L, van der Knaap, Marjo S, Bernard, Geneviève. 2014. Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations. In Neurology, 83, 1898-905. doi:10.1212/WNL.0000000000001002. https://pubmed.ncbi.nlm.nih.gov/25339210/
3. Musumeci, Antonino, Calì, Francesco, Scuderi, Carmela, Di Rosa, Gabriella, Nicotera, Antonio Gennaro. 2022. Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy. In Biomedicines, 10, . doi:10.3390/biomedicines10092276. https://pubmed.ncbi.nlm.nih.gov/36140376/
4. Khan, Amjad, Al Shamsi, Bushra, Al Shehhi, Maryam, Arold, Stefan T, Eyaid, Wafaa. 2024. Further delineation of Wiedemann-Rautenstrauch syndrome linked with POLR3A. In Molecular genetics & genomic medicine, 12, e2274. doi:10.1002/mgg3.2274. https://pubmed.ncbi.nlm.nih.gov/38348603/
5. Liu, Chaofan, Tang, Jiaxuan, Luo, Wei, Li, Ming, Zhu, Lubing. . DNA from macrophages induces fibrosis and vasculopathy through POLR3A/STING/type I interferon axis in systemic sclerosis. In Rheumatology (Oxford, England), 62, 934-945. doi:10.1093/rheumatology/keac324. https://pubmed.ncbi.nlm.nih.gov/35686918/
6. Tewari, Vishal V, Mehta, Ritu, Sreedhar, C M, Gulati, Sheffali, Kabra, Madhulika. 2018. A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report. In BMC pediatrics, 18, 126. doi:10.1186/s12887-018-1108-9. https://pubmed.ncbi.nlm.nih.gov/29618326/
智鼠故事 
