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.
Revue:
Human Mutation

ISSN: 1098-1004,  1059-7794

Année de publication: 2018

Volumen: 39

Número: 2

Pages: 187-192

Type: Article

DOI: 10.1002/HUMU.23368 GOOGLE SCHOLAR lock_openAccès ouvert editor

Objectifs de Développement Durable

La source de données: Scopus