Article
The 208delG mutation in FSCN2 does not associate with retinal degeneration in Chinese individuals.
Investigative ophthalmology & visual science - 1 Feb 2007
Zhang Qingjiong, Li Shiqiang, Xiao Xueshan, Jia Xiaoyun, Guo Xiangming
Abstract excerpt
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. METHODS: DNA fragments encompassing the 208delG mutation were amplified by...
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