Article
Molecular analysis of the VSX1 gene in familial keratoconus.
Molecular vision - 4 Oct 2007
Liskova Petra, Ebenezer Neil D, Hysi Pirro G, Gwilliam Rhian, El-Ashry Mohamed F, Moodaley Lalitha C, Hau Scott, Twa Michael, Tuft Stephen J, Bhatacharya Shomi S
Abstract excerpt
PURPOSE: To evaluate the role of the visual system homeobox gene 1 (VSX1) in the pathogenesis of familial keratoconus. METHODS: Families with two or more individuals with keratoconus were recruited and their members examined. The coding region and intron-exon junctions of the VSX1 gene were sequenced in affected individuals. In cases where there were possible pathogenic changes, segregation within the pedigree...
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