Article
Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy.
Human mutation - 1 Jun 2007
Liskova Petra, Tuft Stephen J, Gwilliam Rhian, Ebenezer Neil D, Jirsova Katerina, Prescott Quincy, Martincova Radka, Pretorius Marike, Sinclair Neil, Boase David L, Jeffrey Margaret J, Deloukas Panos, Hardcastle Alison J, Filipec Martin, Bhattacharya Shomi S
Abstract excerpt
We describe the search for mutations in six unrelated Czech and four unrelated British families with posterior polymorphous corneal dystrophy (PPCD); a relatively rare eye disorder. Coding exons and intron/exon boundaries of all three genes (VSX1, COL8A2, and ZEB1/TCF8) previously reported to be implicated in the pathogenesis of this disorder were screened by DNA sequencing. Four novel pathogenic mutations were...
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