Recessive Mutations in POLR3B Encoding RNA Polymerase III Subunit Causing Diffuse Hypomyelination in Patients with 4H Leukodystrophy with Polymicrogyria and Cataracts

The diagnosis of 4H leukodystrophy (hypomyelination, hypogonadotropic hypogonadism, and hypodontia) is based on clinical findings and magnetic resonance imaging (MRI). Recently, mutations of the genes encoding Pol III (RNA polymerase III) subunit A (POLR3A) and subunit B (POL3B) have been identified...

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Detalles Bibliográficos
Autores principales: Jurkiewicz, E., Dunin-Wąsowicz, D., Gieruszczak-Białek, D., Malczyk, K., Guerrero, K., Gutierrez, M., Tran, L., Bernard, G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2015
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5487884/
https://www.ncbi.nlm.nih.gov/pubmed/26478204
http://dx.doi.org/10.1007/s00062-015-0472-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5487884/
https://www.ncbi.nlm.nih.gov/pubmed/26478204
http://dx.doi.org/10.1007/s00062-015-0472-1

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