A CTRP5 gene S163R mutation knock-in mouse model for late-onset retinal degeneration

Late-onset retinal macular degeneration (L-ORD) is an autosomal dominant inherited disorder caused by a single missense mutation (S163R) in the CTRP5/C1QTNF5 protein. Early phenotypic features of L-ORD include: dark adaptation abnormalities, nyctalopia, and drusen deposits in the peripheral macular...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: Chavali, Venkata R.M., Khan, Naheed W., Cukras, Catherine A., Bartsch, Dirk-Uwe, Jablonski, Monica M., Ayyagari, Radha
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 2011
Schlagworte:
Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3080610/
https://ncbi.nlm.nih.gov/pubmed/21349921
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddr080
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge