Alu element insertion in PKLR gene as a novel cause of pyruvate kinase deficiency in Middle Eastern patients

Harry Lesmana, Lisa Dyer, Xia Li, James Denton, Jenna Griffiths, Satheesh Chonat, Katie G. Seu, Matthew M. Heeney, Kejian Zhang, Robert J. Hopkin, Theodosia A. Kalfa
  • Human Mutation, January 2018, Wiley
  • DOI: 10.1002/humu.23392
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