Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome

  1. Puente, X.S.
  2. Quesada, V.
  3. Osorio, F.G.
  4. Cabanillas, R.
  5. Cadiñanos, J.
  6. Fraile, J.M.
  7. Ordóñez, G.R.
  8. Puente, D.A.
  9. Gutiérrez-Fernández, A.
  10. Fanjul-Fernández, M.
  11. Lévy, N.
  12. Freije, J.M.P.
  13. López-Otín, C.
Journal:
American Journal of Human Genetics

ISSN: 1537-6605 0002-9297

Year of publication: 2011

Volume: 88

Issue: 5

Pages: 650-656

Type: Article

DOI: 10.1016/J.AJHG.2011.04.010 GOOGLE SCHOLAR lock_openOpen access editor