The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene

Peripherin/rds is an integral membrane glycoprotein, mainly located in the rod and cone outer segments. The relevance of this protein to photoreceptor outer segment morphology was first demonstrated in retinal degeneration slow ( rds) mice. Thus far, over 90 human peripherin/RDS gene mutations have...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	Progress in retinal and eye research 2008-03, Vol.27 (2), p.213-235
Hauptverfasser:	Boon, Camiel J.F., den Hollander, Anneke I., Hoyng, Carel B., Cremers, Frans P.M., Klevering, B. Jeroen, Keunen, Jan E.E.
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Humans Intermediate Filament Proteins - genetics Membrane Glycoproteins - genetics Mice Mutation Nerve Tissue Proteins - genetics Peripherins Retinal Degeneration - genetics
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!