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

Abstract:

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, and II--according to the serum level of sulfated keratan sulfate (KS) and immunoreactivity of the corneal tissue. Recently, mutations in a new carbohydrate sulfotransferase gene (CHST6) encoding corneal g...

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Publication status:
Published

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Authors


El-Ashry, MF More by this author
Abd El-Aziz, MM More by this author
Wilkins, S More by this author
Cheetham, ME More by this author
Wilkie, SE More by this author
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Journal:
Investigative ophthalmology and visual science
Volume:
43
Issue:
2
Pages:
377-382
Publication date:
2002-02-05
EISSN:
1552-5783
ISSN:
0146-0404
URN:
uuid:8f90ea28-b24c-4d51-a819-0cee8a22bb7b
Source identifiers:
251605
Local pid:
pubs:251605

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