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

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...

Disgrifiad llawn

Manylion Llyfryddiaeth
Prif Awduron:	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
Fformat:	Journal article
Iaith:	English
Cyhoeddwyd:	2002

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gan: Halford, S, et al.
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Bilateral corneal dystrophy
gan: Uhlig, C, et al.
Cyhoeddwyd: (2009)

[Bilateral corneal dystrophy].
gan: Uhlig, C, et al.
Cyhoeddwyd: (2009)

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gan: Hull, S, et al.
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gan: Padma T, et al.
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Genetic studies in corneal dystrophies
gan: Kumar Prakash, et al.
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