Article
No pathogenic mutations identified in the COL8A1 and COL8A2 genes in familial Fuchs corneal dystrophy.
Investigative ophthalmology & visual science - 1 Sept 2006
Aldave Anthony J, Rayner Sylvia A, Salem Andrew K, Yoo Gina L, Kim Brian T, Saeedian Monika, Sonmez Baris, Yellore Vivek S
Abstract excerpt
PURPOSE: To investigate the genetic basis of late-onset, familial Fuchs endothelial corneal dystrophy (FECD) through screening of the COL8A1 and COL8A2 genes, in which mutations have been associated with both early and late-onset, familial and sporadic FECD. METHODS: DNA extraction, PCR amplification, and direct sequencing of the COL8A1 and COL8A2 genes was performed in affected and unaffected members of 15...
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