Concepedia

Publication | Closed Access

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

100

Citations

33

References

2002

Year

Mohamed F. El-Ashry, Mai M. Abd El-Aziz, Simon Wilkins, Michael E. Cheetham, Susan E. Wilkie, Alison J. Hardcastle, Stephanie Halford, Ahmed Y. Bayoumi, Linda Ficker, Stephen J. Tuft,
PubMed

Abstract

These novel mutations are thought to result in loss of corneal sulfotransferase function, which would account for the MCD phenotype.

References

YearCitations

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