Novel mutations in the CHST6 gene causing macular corneal dystrophy
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference27 articles.
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2. Measurement of activities of human serum sulfotransferases which transfer sulfate to the galactose residues of keratan sulfate and to the nonreducing end N-acetylglucosamine residues of N-acetyllactosamine trisaccharide: comparison between normal controls and patients with macular corneal dystrophy;Hasegawa;J Biochem,1999
3. Human corneal GlcNAc 6-O-Sulfotransferase and mouse intestinal GlcNAc 6-O-Sulfotransferase both produce keratan sulfate;Akama;J Biol Chem,2001
4. Molecular cloning and characterization of an N-acetylglucosamine-6-O-sulfotransferase;Uchimura;J Biol Chem,1998
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2. Molecular Genetics and Clinical Aspects of Macular Corneal Dystrophy;Essentials in Ophthalmology;2021
3. CHST6 mutations identified in Iranian MCD patients and CHST6 mutations reported worldwide identify targets for gene editing approaches including the CRISPR/Cas system;International Ophthalmology;2020-05-29
4. A comprehensive evaluation of 181 reported CHST6 variants in patients with macular corneal dystrophy;Aging;2019-02-04
5. Phenotype and genotype analysis in patients with macular corneal dystrophy;British Journal of Ophthalmology;2014-06-11
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