Article
Truncating mutations in the carbohydrate sulfotransferase 6 gene (CHST6) result in macular corneal dystrophy.
Investigative ophthalmology & visual science - 1 Jul 2003
Niel Florence, Ellies Pierre, Dighiero Paul, Soria Jeannette, Sabbagh Celia, San Chankannira, Renard Gilles, Delpech Marc, Valleix Sophie
Abstract excerpt
PURPOSE: Identification of mutations in the CHST6 gene in 15 patients from 11 unrelated families affected with recessive macular corneal dystrophy (MCD). METHODS: Genomic DNA was extracted from peripheral blood leukocytes of the affected patients and their healthy family members, and the mutational status of the CHST6 gene was determined for each patient by a PCR-sequencing approach. Serum concentrations of...
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