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.
Aldizkaria:
Human Mutation

ISSN: 1059-7794 1098-1004

Argitalpen urtea: 2013

Alea: 34

Zenbakia: 8

Orrialdeak: 1066-1070

Mota: Artikulua

DOI: 10.1002/HUMU.22336 GOOGLE SCHOLAR

Garapen Iraunkorreko Helburuak