The 208delG Mutation inFSCN2Does Not Associate with Retinal Degeneration in Chinese Individuals

1 February 2007

journal article
Published by Association for Research in Vision and Ophthalmology (ARVO) in Investigative Opthalmology & Visual Science

Vol. 48 (2) , 530-533
https://doi.org/10.1167/iovs.06-0669

Abstract

Purpose. The 208delG (c.72delG, p.Thr25GlnfsX120) mutation in the FSCN2 gene was reported to cause autosomal dominant retinitis pigmentosa (ADRP) and autosomal dominant macular degeneration (ADMD). The purpose of this study was to detect the 208delG mutation in Chinese individuals, with or without hereditary retinal degeneration.

Keywords

208DELG MUTATION
FSCN2
AUTOSOMAL DOMINANT
CHINESE INDIVIDUALS
P.THR25GLNFSX120
ADRP
C.72DELG
HEREDITARY
ADMD

This publication has 0 references indexed in Scilit: