Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy.

@article{Elashry2005NovelCN,
  title={Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy.},
  author={M F El-ashry and Mai Mohamed Abd El-Aziz and Osama Y. Shalaby and Simon Wilkins and Subathra Poopalasundaram and Michael E Cheetham and Stephen J. Tuft and Alison J. Hardcastle and Shomi Shanker Bhattacharya and Neil D. Ebenezer},
  journal={American journal of ophthalmology},
  year={2005},
  volume={139 1},
  pages={192-3}
}
PURPOSE To identify the underlying mutations in two unrelated British families with macular corneal dystrophy (MCD) by screening the carbohydrate sulfotransferase (CHST6) gene. DESIGN Case reports and results of DNA analysis. METHODS Two subjects from two British families with MCD were studied. The genetic status of CHST6 was determined for all members of these MCD families. In addition, sulfated keratan sulfate (KS) assay from the probands was also undertaken. CHST6 gene was amplified by… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 10 extracted citations

Similar Papers

Loading similar papers…