Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in aicardi-Goutières syndrome

  1. Rice, G.I.
  2. Reijns, M.A.M.
  3. Coffin, S.R.
  4. Forte, G.M.A.
  5. Anderson, B.H.
  6. Szynkiewicz, M.
  7. Gornall, H.
  8. Gent, D.
  9. Leitch, A.
  10. Botella, M.P.
  11. Fazzi, E.
  12. Gener, B.
  13. Lagae, L.
  14. Olivieri, I.
  15. Orcesi, S.
  16. Swoboda, K.J.
  17. Perrino, F.W.
  18. Jackson, A.P.
  19. Crow, Y.J.
Revue:
Human Mutation

ISSN: 1059-7794 1098-1004

Année de publication: 2013

Volumen: 34

Número: 8

Pages: 1066-1070

Type: Article

DOI: 10.1002/HUMU.22336 GOOGLE SCHOLAR

Objectifs de Développement Durable