De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy

POLR3B encodes the second-largest catalytic subunit of RNA polymerase III, an enzyme involved in transcription. Bi-allelic pathogenic variants in POLR3B are a well-established cause of hypomyelinating leukodystrophy. We describe six unrelated individuals with de novo missense variants in POLR3B and...

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Bibliografiske detaljer
Udgivet i:Am J Hum Genet
Main Authors: Djordjevic, Djurdja, Pinard, Maxime, Gauthier, Marie-Soleil, Smith-Hicks, Constance, Hoffman, Trevor L., Wolf, Nicole I., Oegema, Renske, van Binsbergen, Ellen, Baskin, Berivan, Bernard, Geneviève, Fribourg, Sébastien, Coulombe, Benoit, Yoon, Grace
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2021
Fag:
Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7820722/
https://ncbi.nlm.nih.gov/pubmed/33417887
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2020.12.002
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