Article
Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus.
Molecular vision - 30 Mar 2011
Karolak Justyna A, Kulinska Karolina, Nowak Dorota M, Pitarque Jose A, Molinari Andrea, Rydzanicz Malgorzata, Bejjani Bassem A, Gajecka Marzena
Abstract excerpt
PURPOSE: Keratoconus (KTCN) is a non-inflammatory, usually bilateral disorder of the eye which results in the conical shape and the progressive thinning of the cornea. Several studies have suggested that genetic factors play a role in the etiology of the disease. Several loci were previously described as possible candidate regions for familial KTCN; however, no causative mutations in any genes have been...
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