Related to CHST6
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Identification of novel mutations in a carbohydrate sulfotransferase gene (CHST6) causing...
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Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy
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
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Sequencing of the CHST6 gene in Czech macular corneal dystrophy patients supports the...
AIMS: To characterise the role of the carbohydrate sulfotransferase gene (CHST6) in macular corneal dystrophy (MCD) in Czech patients. METHODS: The coding region of the CHST6 gene was directly sequenced in 10 affected and five unaffected members
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Sequencing of the CHST6 gene in Czech macular dystrophy patients supports the evidence of...
Aims: To characterise the role of the carbohydrate sulfotransferase gene (CHST6) in macular corneal dystrophy (MCD) in Czech patients. Methods: The coding region of the CHST6 gene was directly sequenced in 10 affected and five unaffected members
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Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6)...
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
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Molecular genetic study of Egyptian patients with macular corneal dystrophy.
AIM: To identify the underlying genetic defect in Egyptian patients with macular corneal dystrophy (MCD). METHODS: A clinical and molecular genetic study was performed on 11 patients from six families with MCD. Clinical diagnosis was confirmed by
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Macular corneal dystrophy and associated corneal thinning.
PURPOSE: To identify the molecular genetic cause of macular corneal dystrophy (MCD) in four probands, and characterize phenotypic similarities between MCD and keratoconus. METHODS: We performed ophthalmological examination, Scheimpflug imaging
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Apple flavonoids inhibit growth of HT29 human colon cancer cells and modulate expression...
Flavonoids from fruits and vegetables probably reduce risks of diseases associated with oxidative stress, including cancer. Apples contain significant amounts of flavonoids with antioxidative potential. The objectives of this study were to
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Molecular genetics and genotype-phenotype correlation of inherited corneal dystrophies
Corneal dystrophies are a group of inherited, primarily monogenic, disorders that compromise the transparency of the cornea and cause visual impairment. A large cohort, consisting of 191 corneal dystrophy probands, was recruited to the study with
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