Article info

Original research
Novel POLE mutations identified in patients with IMAGE-I syndrome cause aberrant subcellular localisation and protein degradation in the nucleus

Authors

  1. Correspondence to Dr Yoji Sasahara, Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan; ysasahara{at}med.tohoku.ac.jp
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Citation

Nakano T, Sasahara Y, Kikuchi A, et al
Novel POLE mutations identified in patients with IMAGE-I syndrome cause aberrant subcellular localisation and protein degradation in the nucleus

Publication history

  • Received October 28, 2021
  • Accepted April 23, 2022
  • First published May 9, 2022.
  • Supplementary Data

    This web only file has been produced by the BMJ Publishing Group from an electronic file supplied by the author(s) and has not been edited for content.

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