Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation

Recessive mutations in the ubiquitously expressed POLR3A gene cause one of the most frequent forms of childhood-onset hypomyelinating leukodystrophy (HLD): POLR3-HLD. POLR3A encodes the largest subunit of RNA Polymerase III (Pol III), which is responsible for the transcription of transfer RNAs (tRNA...

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Detalles Bibliográficos
Publicado en:Mol Brain
Main Authors: Choquet, Karine, Yang, Sharon, Moir, Robyn D., Forget, Diane, Larivière, Roxanne, Bouchard, Annie, Poitras, Christian, Sgarioto, Nicolas, Dicaire, Marie-Josée, Noohi, Forough, Kennedy, Timothy E., Rochford, Joseph, Bernard, Geneviève, Teichmann, Martin, Coulombe, Benoit, Willis, Ian M., Kleinman, Claudia L., Brais, Bernard
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2017
Assuntos:
Short Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5391615/
https://ncbi.nlm.nih.gov/pubmed/28407788
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13041-017-0294-y
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