A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function

  1. Salpietro, V.
  2. Efthymiou, S.
  3. Manole, A.
  4. Maurya, B.
  5. Wiethoff, S.
  6. Ashokkumar, B.
  7. Cutrupi, M.C.
  8. Dipasquale, V.
  9. Manti, S.
  10. Botia, J.A.
  11. Ryten, M.
  12. Vandrovcova, J.
  13. Bello, O.D.
  14. Bettencourt, C.
  15. Mankad, K.
  16. Mukherjee, A.
  17. Mutsuddi, M.
  18. Houlden, H.
Journal:
Human Mutation

ISSN: 1098-1004 1059-7794

Year of publication: 2018

Volume: 39

Issue: 2

Pages: 187-192

Type: Article

DOI: 10.1002/HUMU.23368 GOOGLE SCHOLAR lock_openOpen access editor

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