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CHST6 gene

Known as: CARBOHYDRATE SULFOTRANSFERASE 6, CHST6, CORNEAL N-ACETYLGLUCOSAMINE-6-SULFOTRANSFERASE 
National Institutes of Health

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Related topics

2 relations
CHST6 protein, humanMacular dystrophy, corneal type 1

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Simultaneous Presence of Macular Corneal Dystrophy and Retinitis Pigmentosa in Three Members of a Family
Macular corneal dystrophy (MCD) is an autosomal recessive hereditary disease. In most cases, various mutations in carbohydrate… 
2015
2015
Molecular analysis of the CHST6 gene in Korean patients with macular corneal dystrophy: Identification of three novel mutations
Purpose To identify the underlying genetic defect in Korean patients with macular corneal dystrophy (MCD). Methods Genomic DNA… 
2014
2014
TGFBI, CHST6, and GSN gene analysis in Mexican patients with stromal corneal dystrophies
ObjectivesThe purpose of our study was to describe the results of molecular screening of TGFBI, CHST6, and GSN genes in a group… 
2013
2013
A Case of Korean Patient with Macular Corneal Dystrophy Associated with Novel Mutation in the CHST6 Gene
To report a novel mutation within the CHST6 gene, as well as describe light and electron microscopic features of a case of… 
2011
2011
Pathogenic mutations of TGFBI and CHST6 genes in Chinese patients with Avellino, lattice, and macular corneal dystrophies
ObjectiveTo investigate gene mutations associated with three different types of corneal dystrophies (CDs), and to establish a… 
2010
2010
Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects
Low levels of high-density lipoprotein cholesterol (HDL-C) are an independent risk factor for cardiovascular disease. To identify… 
2010
2010
[Novel CHST6 compound heterozygous mutations cause macular corneal dystrophy in a Chinese family].
OBJECTIVE The aim of this study was to identify mutations of CHST6 gene in a Chinese family with macular corneal dystrophy (MCD… 
2009
2009
Macular corneal dystrophy in a Chinese family related with novel mutations of CHST6
Purpose To identify mutations in the carbohydrate sulfotransferase gene (CHST6) for a Chinese family with macular corneal… 
2009
2009
Novel mutations of CHST6 in Iranian patients with macular corneal dystrophy
Purpose To characterize mutations within the carbohydrate sulfotransferase 6 (CHST6) gene in Iranian subjects from 12 families… 
2009
2009
Macular Corneal Dystrophy in a Compound Heterozygote for the Novel P186R Mutation and the E274K Mutation of CHST6
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