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

  1. E Sánchez-Ferrero1,
  2. E Coto2,
  3. C Beetz2,
  4. J Gámez3,
  5. AI Corao1,
  6. M Díaz1,
  7. J Esteban4,
  8. E del Castillo5,
  9. G Moris6,
  10. J Infante7,
  11. M Menéndez8,
  12. SI Pascual-Pascual9,
  13. A López de Munaín10,
  14. MJ Garcia-Barcina11,
  15. V Alvarez1,*

Article first published online: 21 MAY 2012

DOI: 10.1111/j.1399-0004.2012.01896.x

Issue

Clinical Genetics

Clinical Genetics

Volume 83, Issue 3, pages 257–262, March 2013

Additional Information

How to Cite

Sánchez-Ferrero, E., Coto, E., Beetz, C., Gámez, J., Corao, A., Díaz, M., Esteban, J., del Castillo, E., Moris, G., Infante, J., Menéndez, M., Pascual-Pascual, S., López de Munaín, A., Garcia-Barcina, M. and Alvarez, V. (2013), SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V. Clinical Genetics, 83: 257–262. doi: 10.1111/j.1399-0004.2012.01896.x

Author Information

  1. 1

    Laboratory of Molecular Genetics-Genetic Unit, Laboratorio de Medicina, Hospital Universitario Central de Asturias, Oviedo, Spain

  2. 2

    Institute for Clinical Chemistry and Laboratory Medicine, University Hospital Jena, Jena, Germany

  3. 3

    Department of Neurology, Hospital Universitari Vall d'Hebron, VHIR Universidad Autonoma de Barcelona, Barcelona, Spain

  4. 4

    Department of Neurology, Hospital 12 de Octubre, Madrid, Spain

  5. 5

    Genetics Unit, Hospital Universitario Carlos Haya, Málaga, Spain

  6. 6

    Department of Neurology, Hospital Universitario Central de Asturias, Oviedo, Spain

  7. 7

    Department of Neurology, Hospital Universitario M de Valdecilla, Santander, Spain

  8. 8

    Department of Neurology, Hospital Alvarez-Buylla, Mieres, Spain

  9. 9

    Department of Pediatric Neurology, University Hospital La Paz, Madrid, Spain

  10. 10

    Department of Neurology, Hospital Donostia-Instituto Biodonostia-Ciberned, San Sebastián, Spain

  11. 11

    Department of Genetics, Hospital de Basurto, Bilbao, Spain

*Dra. Victoria Alvarez, Laboratory of Molecular Genetics-Genetic Unit, Laboratorio de Medicina, Hospital Universitario Central de Asturias, 33006-Oviedo, Spain. Tel.: +34 985 10 79 68; fax: 34 985 10 79 68; e-mail: victoria.alvarez@sespa.princast.es

  1. See Appendix.

Publication History

  1. Issue published online: 18 FEB 2013
  2. Article first published online: 21 MAY 2012
  3. Accepted manuscript online: 10 MAY 2012 05:18AM EST
  4. Received 1 March 2012, revised and accepted for publication 1 May 2012

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View Full Article with Supporting Information (HTML) Get PDF (596K)