Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia

RNA polymerase III (Pol III) is an essential 17-subunit complex responsible for the transcription of small housekeeping RNAs such as transfer RNAs and 5S ribosomal RNA. Biallelic variants in four genes (POLR3A, POLR3B, and POLR1C and POLR3K) encoding Pol III subunits have previously been found in in...

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Détails bibliographiques
Publié dans:Eur J Hum Genet
Auteurs principaux: Terhal, Paulien A., Vlaar, Judith M., Middelkamp, Sjors, Nievelstein, Rutger A. J., Nikkels, Peter G. J., Ross, Jamila, Créton, Marijn, Bos, Jeroen W., Voskuil-Kerkhof, Elsbeth S. M., Cuppen, Edwin, Knoers, Nine, van Gassen, Koen L. I.
Format: Artigo
Langue:Inglês
Publié: Springer International Publishing 2019
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6906301/
https://ncbi.nlm.nih.gov/pubmed/31089205
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-019-0427-0
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