The alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles

  1. Boone, P.M.
  2. Yuan, B.
  3. Campbell, I.M.
  4. Scull, J.C.
  5. Withers, M.A.
  6. Baggett, B.C.
  7. Beck, C.R.
  8. Shaw, C.J.
  9. Stankiewicz, P.
  10. Moretti, P.
  11. Goodwin, W.E.
  12. Hein, N.
  13. Fink, J.K.
  14. Seong, M.-W.
  15. Seo, S.H.
  16. Park, S.S.
  17. Karbassi, I.D.
  18. Batish, S.D.
  19. Ordóñez-Ugalde, A.
  20. Quintáns, B.
  21. Sobrido, M.-J.
  22. Stemmler, S.
  23. Lupski, J.R.
Revista:
American Journal of Human Genetics

ISSN: 1537-6605 0002-9297

Ano de publicación: 2014

Volume: 95

Número: 2

Páxinas: 143-161

Tipo: Artigo

DOI: 10.1016/J.AJHG.2014.06.014 GOOGLE SCHOLAR lock_openAcceso aberto editor