Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy.
PURPOSE: Macular corneal dystrophy (MCD) is a rare corneal dystrophy that is characterized by abnormal deposits in the corneal stroma, keratocytes, Descemet's membrane, and endothelium, accompanied by progressive clouding. It has been classified into three immunophenotypes--MCD types I, IA, an...
Hlavní autoři: | El-Ashry, M, El-Aziz, A, Wilkins, S, Cheetham, M, Wilkie, SE, Hardcastle, A, Halford, S, Bayoumi, A, Ficker, L, Tuft, S, Bhattacharya, S, Ebenezer, N |
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Médium: | Journal article |
Jazyk: | English |
Vydáno: |
2002
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