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RNA Polymerase II
RNA Polymerase III
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.
Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy.
Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation.
4H syndrome with late-onset growth hormone deficiency caused by POLR3A mutations.
Leukodystrophy-associated POLR3A mutations down-regulate the RNA polymerase III transcript and important regulatory RNA BC200.
The leukodystrophy mutation Polr3b R103H causes homozygote mouse embryonic lethality and impairs RNA polymerase III biogenesis.
Splicing Kinetics and Coordination Revealed by Direct Nascent RNA Sequencing through Nanopores.
Revealing nascent RNA processing dynamics with nano-COP.
RNA Polymerase III Subunit Mutations in Genetic Diseases.
RNA Polymerase I