Article
Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in Iceland.
Molecular vision - 13 Dec 2000
Liu N P, Dew-Knight S, Rayner M, Jonasson F, Akama T O, Fukuda M N, Bao W, Gilbert J R, Vance J M, Klintworth G K
Abstract excerpt
PURPOSE: Macular corneal dystrophy (MCD) is subdivided into three immunophenotypes (MCD types I, IA and II). Recently, mutations in the carbohydrate sulfotransferase 6 gene (CHST6) were identified to cause MCD. The purpose of this study was to examine CHST6 for mutations in Icelandic patients with MCD type I. METHODS: Genomic DNA was extracted from leukocytes in the peripheral blood and the coding region of CHST6...
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