The leukodystrophy mutation Polr3b R103H causes homozygote mouse embryonic lethality and impairs RNA polymerase III biogenesis

Recessive mutations in the ubiquitously expressed POLR3A and POLR3B genes are the most common cause of POLR3-related hypomyelinating leukodystrophy (POLR3-HLD), a rare childhood-onset disorder characterized by deficient cerebral myelin formation and cerebellar atrophy. POLR3A and POLR3B encode the t...

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Detalles Bibliográficos
Autores principales: Choquet, Karine, Pinard, Maxime, Yang, Sharon, Moir, Robyn D., Poitras, Christian, Dicaire, Marie-Josée, Sgarioto, Nicolas, Larivière, Roxanne, Kleinman, Claudia L., Willis, Ian M., Gauthier, Marie-Soleil, Coulombe, Benoit, Brais, Bernard
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Short Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6587292/
https://www.ncbi.nlm.nih.gov/pubmed/31221184
http://dx.doi.org/10.1186/s13041-019-0479-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6587292/
https://www.ncbi.nlm.nih.gov/pubmed/31221184
http://dx.doi.org/10.1186/s13041-019-0479-7

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