Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in Iceland.

@article{Liu2000MutationsIC,
  title={Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in Iceland.},
  author={Nan Ping Liu and Susan Dew-Knight and M. Chevely Rayner and Fridbert Jonasson and Tomoya O. Akama and Michiko N. Fukuda and Wenjun Bao and John R. Gilbert and Jeffery M. Vance and Gordon K. Klintworth},
  journal={Molecular vision},
  year={2000},
  volume={6},
  pages={
          261-4
        }
}
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 was examined for mutations by polymerase chain reaction (PCR) and direct… CONTINUE READING

Citations

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Macular corneal dystrophy in a Chinese family related with novel mutations of CHST6

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Truncating mutations in the carbohydrate sulfotransferase 6 gene (CHST6) result in macular corneal dystrophy.

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