Article
No pathogenic mutations identified in the COL8A2 gene or four positional candidate genes in patients with posterior polymorphous corneal dystrophy.
Investigative ophthalmology & visual science - 1 May 2005
Yellore Vivek S, Rayner Sylvia A, Emmert-Buck Leslie, Tabin Geoffrey C, Raber Irving, Hannush Sadeer B, Stulting R Doyle, Sampat Kapil, Momi Rominder, Principe Alexandre H, Aldave Anthony J
Abstract excerpt
PURPOSE: To identify the genetic basis of posterior polymorphous corneal dystrophy (PPCD) through screening of four positional candidate genes and the COL8A2 gene, in which a presumed pathogenic mutation has previously been identified in affected patients. METHODS: DNA extraction, PCR amplification, and direct sequencing of the COL8A2, BFSP1, CST3, MMP9, and SLPI genes were performed in 14 unrelated, affected...
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