Article
An association between the calpastatin (CAST) gene and keratoconus.
Cornea - 1 May 2013
Li Xiaohui, Bykhovskaya Yelena, Tang Yongming G, Picornell Yoana, Haritunians Talin, Aldave Anthony J, Szczotka-Flynn Loretta, Iyengar Sudha K, Rotter Jerome I, Taylor Kent D, Rabinowitz Yaron S
Abstract excerpt
PURPOSE: Keratoconus (KC) is a genetically heterogeneous corneal dystrophy. Previously, we performed 2 genome-wide linkage scans in a 4-generation autosomal dominant pedigree and repeatedly mapped a KC locus to a genomic region located on chromosome 5q overlapping the gene encoding the inhibitor of calpains, calpastatin (CAST). To test whether variants in CAST gene are involved in genetic susceptibility to KC, we...
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