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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Mol Brain
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6587292/
https://ncbi.nlm.nih.gov/pubmed/31221184
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13041-019-0479-7
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados