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

@article{Niel2003TruncatingMI,
  title={Truncating mutations in the carbohydrate sulfotransferase 6 gene (CHST6) result in macular corneal dystrophy.},
  author={Florence Niel and Pierre Ellies and Paul Louis Dighiero and Jeannette Soria and C{\'e}lia Sabbagh and Chankannira S{\^a}n and G. Renard and Marcelo Delpech and Sophie Valleix},
  journal={Investigative ophthalmology & visual science},
  year={2003},
  volume={44 7},
  pages={
          2949-53
        }
}
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 antigenic keratan sulfate for each proband were determined by ELISA. RESULTS ELISA… CONTINUE READING

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Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy

  • MF El-Ashry, MM Abd El-Aziz
  • Invest Ophthalmol Vis Sci
  • 2001
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