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Molecular Brain, ISSN 1756-6606, 06/2019, Volume 12, Issue 1, pp. 59 - 59
Recessive mutations in the ubiquitously expressed POLR3A and POLR3B genes are the most common cause of POLR3-related hypomyelinating leukodystrophy... 
RNA polymerase III | Myelination | Mouse model | POLR3A | POLR3B | Leukodystrophy | NEUROSCIENCES | RECESSIVE SPASTIC ATAXIA | SUBUNIT | Nervous system diseases | Genetic aspects | Biosynthesis | RNA | Cells
Journal Article
Journal Article
by Wu, SY and Bai, ZJ and Dong, XQ and Yang, DP and Chen, HM and Hua, J and Zhou, LB and Lv, HT
BMC PEDIATRICS, ISSN 1471-2431, 08/2019, Volume 19, Issue 1, pp. 1 - 6
Background POLR3-related leukodystrophy is an autosomal recessive neurodegenerative disorder characterized by onset time ranging from the neonatal period to... 
POLR3-related leukodystrophy | Polytrichia | HYPOMYELINATION | Bronchodysplasia | 4H SYNDROME | PEDIATRICS | POLR3A gene | HYPOGONADOTROPIC HYPOGONADISM | HYPODONTIA | Usage | Care and treatment | Gene mutations | Exome sequencing | Nervous system | Degeneration | Genetic aspects | Research
Journal Article
Brain, ISSN 0006-8950, 2017, Volume 140, Issue 6, pp. 1561 - 1578
Journal Article
Neuropediatrics, ISSN 0174-304X, 2015, Volume 46, Issue 3, pp. 221 - 227
Objective This study aims to ascertain frequency of mutations in POLR3A or POLR3B, which are associated with 4H leukodystrophy, in a cohort of patients with... 
Original Article | 4H syndrome | POLR3A | hypomyelination | POLR3B | MRI | CATALYTIC SUBUNIT | BASAL GANGLIA | CLINICAL NEUROLOGY | LEUKOENCEPHALOPATHY | LEUKODYSTROPHIES | CEREBELLUM | PEDIATRICS | SPECTRUM | HYPOGONADOTROPIC HYPOGONADISM | HYPODONTIA | POLYMERASE-III
Journal Article
Human Genetics, ISSN 0340-6717, 12/2018, Volume 137, Issue 11, pp. 921 - 939
Journal Article
Journal Article
Clinical Neurology, ISSN 0009-918X, 08/2013, Volume 53, Issue 8, pp. 624 - 629
Journal Article