A recurrent de novo missense mutation in UBTF causes developmental neuroregression
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DOI: 10.1093/hmg/ddy049
Abstract: UBTF (upstream binding transcription factor) exists as two isoforms; UBTF1 regulates rRNA transcription by RNA polymerase 1, whereas UBTF2 regulates mRNA transcription by RNA polymerase 2. Herein, we describe 4 patients with very similar patterns… read more here.
Keywords: recurrent novo; genetics; novo missense; mutation ubtf ... See more keywords