RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis

Document Details

Document Type
Pub Defense Publication
Publication Date
Jul 01, 2022
Source ID
10.1172/jci145660

Entities

People

  • Alan Donaldson
  • Cheng-Shiun Leu
  • David A Koolen
  • Debby M.e.i. Hellebrekers
  • Emma L. Blakely
  • Ewen W. Sommerville
  • Gráinne S. Gorman
  • Hubert J.M. Smeets
  • Ingrid Van De Laar
  • Javier Torres-Torronteras
  • Jeevan B. Gc
  • Joachim Frank
  • Jonathan Shintaku
  • Kurenai Tanji
  • Martí Juanola‐Falgarona
  • Michio Hirano
  • Patrick F. Chinnery
  • Penelope E Bonnen
  • Ramon Martí
  • Richard J Rodenburg
  • Robert William Taylor
  • Wafaa Eyaid
  • Wolfgang M Pernice
  • Zuben P Brown

Organizations

  • J. Willard and Alice S. Marriott Foundation
  • Medical Research Council
  • National Institutes of Health
  • National Science Foundation
  • United States Department of Defense