Your browser doesn't support javascript.
loading
Novel pathogenic mutations in C1QTNF5 support a dominant negative disease mechanism in late-onset retinal degeneration.
Stanton, Chloe M; Borooah, Shyamanga; Drake, Camilla; Marsh, Joseph A; Campbell, Susan; Lennon, Alan; Soares, Dinesh C; Vallabh, Neeru A; Sahni, Jayashree; Cideciyan, Artur V; Dhillon, Baljean; Vitart, Veronique; Jacobson, Samuel G; Wright, Alan F; Hayward, Caroline.
Afiliación
  • Stanton CM; Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom. chloe.stanton@igmm.ed.ac.uk.
  • Borooah S; Medical Research Council Centre for Regenerative Medicine, University of Edinburgh, Edinburgh, United Kingdom.
  • Drake C; Princess Alexandra Eye Pavilion, Edinburgh, United Kingdom.
  • Marsh JA; Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.
  • Campbell S; Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.
  • Lennon A; Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.
  • Soares DC; Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.
  • Vallabh NA; Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.
  • Sahni J; St. Paul's Eye Unit, Royal Liverpool Hospital, Liverpool, United Kingdom.
  • Cideciyan AV; Department of Eye and Vision Sciences, University of Liverpool, Liverpool, United Kingdom.
  • Dhillon B; Department of Eye and Vision Sciences, University of Liverpool, Liverpool, United Kingdom.
  • Vitart V; Roche Pharma Research and Early Development, Roche Innovation Center Basel, F. Hoffmann-La Roche Ltd, Basel, Switzerland.
  • Jacobson SG; Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Wright AF; Princess Alexandra Eye Pavilion, Edinburgh, United Kingdom.
  • Hayward C; Centre for Clinical Brain Sciences, School of Clinical Sciences, University of Edinburgh, Edinburgh, United Kingdom.
Sci Rep ; 7(1): 12147, 2017 09 22.
Article en En | MEDLINE | ID: mdl-28939808
Asunto(s)
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Degeneración Retiniana / Colágeno / Mutación Tipo de estudio: Prognostic_studies Idioma: En Revista: Sci Rep Año: 2017 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Degeneración Retiniana / Colágeno / Mutación Tipo de estudio: Prognostic_studies Idioma: En Revista: Sci Rep Año: 2017 Tipo del documento: Article