3312 Macular corneal dystrophy in Iceland: A immunohistochemical and genealogical study of 28 cases
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چکیده
منابع مشابه
3312 Macular corneal dystrophy in Iceland: A immunohistochemical and genealogical study of 28 cases
w The human wrnea is a densely innervated struchxe. However, data on nerve fiber (NF) distribution in tbe human cornea are scarce possibly due to fast post mortem degeneration. Therefore, moat descriptions on comeal innervation are based on studies in rats and rabbits. Tbe present study is focussed on the ulaastruaure of NF’s in the central and peripheral human cornea. Methods: Tissue samples o...
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Macular corneal dystrophy (MCD) is an autosomal recessive hereditary disease. In most cases, various mutations in carbohydrate sulfotransferase 6 (CHST6) gene are the main cause of MCD. These mutations lead to a defect in keratan sulfate synthesis. Retinitis pigmentosa (RP) is another eye disorder with nyctalopia as its common symptom. It has been shown that more than 65 genes have been implica...
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PURPOSE Macular corneal dystrophy (MCD) is subdivided into three immunophenotypes (MCD types I, IA and II). Recently, mutations in the carbohydrate sulfotransferase 6 gene (CHST6) were identified to cause MCD. The purpose of this study was to examine CHST6 for mutations in Icelandic patients with MCD type I. METHODS Genomic DNA was extracted from leukocytes in the peripheral blood and the cod...
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Mutations in the CHST6 gene in patients with macular corneal dystrophy: immunohistochemical evidence of heterogeneity.
PURPOSE Macular corneal dystrophy (MCD) is an autosomal recessive disorder leading to severe visual impairment. The carbohydrate sulfotransferase 6 (CHST6) gene, which encodes the corneal N-acetylglucosamine 6-O-sulfotransferase on 16q22 has been identified as a causative gene for MCD. The purpose of this study was to identify mutations in CHST6 in Japanese patients with MCD and evaluate them b...
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ژورنال
عنوان ژورنال: Vision Research
سال: 1995
ISSN: 0042-6989
DOI: 10.1016/0042-6989(95)90301-1