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={F. Niel and P. Ellies and P. Dighiero and J. Soria and C. Sabbagh and C. S{\^a}n and G. Renard and M. Delpech and S. Valleix},
  journal={Investigative ophthalmology & visual science},
  year={2003},
  volume={44 7},
  pages={
          2949-53
        }
}
  • F. Niel, P. Ellies, +6 authors S. Valleix
  • Published 2003
  • Medicine, Biology
  • Investigative ophthalmology & visual science
  • 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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