SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V

  1. Sánchez-Ferrero, E.
  2. Coto, E.
  3. Beetz, C.
  4. Gámez, J.
  5. Corao, A.
  6. Díaz, M.
  7. Esteban, J.
  8. del Castillo, E.
  9. Moris, G.
  10. Infante, J.
  11. Menéndez, M.
  12. Pascual-Pascual, S.
  13. López de Munaín, A.
  14. Garcia-Barcina, M.
  15. Alvarez, V.
Journal:
Clinical Genetics

ISSN: 0009-9163 1399-0004

Year of publication: 2013

Volume: 83

Issue: 3

Pages: 257-262

Type: Article

DOI: 10.1111/J.1399-0004.2012.01896.X GOOGLE SCHOLAR