Associated Papers
Variant Landscape of 15 Genes Involved in Corneal Dystrophies: Report of 30 Families and Comprehensive Analysis of the Literature.
Zhu D et al.
International Journal of Molecular Sciences, 2023
36902444 (PubMed )
Supplement: ijms-24-05012-s001.zip › ijms-2152855-Supplementary_Table_S2_.xlsx › Sheet1
Macular corneal dystrophy related to novel mutations of CHST6 in a Chinese family and clinical observation after penetrating keratoplasty.
Li D et al.
Bmc Medical Genomics, 2021
Novel compound heterozygous mutations in the CHST6 gene cause macular corneal dystrophy in a Han Chinese family.
Huang Y et al.
Annals of Translational Medicine, 2021
CHST6 mutations identified in Iranian MCD patients and CHST6 mutations reported worldwide identify targets for gene editing approaches including the CRISPR/Cas system.
Safari I et al.
International Ophthalmology, 2020
A comprehensive evaluation of 181 reported CHST6 variants in patients with macular corneal dystrophy.
Zhang J et al.
Aging, 2019
Molecular analysis of the CHST6 gene in Korean patients with macular corneal dystrophy: Identification of three novel mutations.
Park SH et al.
Molecular Vision, 2015
[Novel CHST6 compound heterozygous mutations cause macular corneal dystrophy in a Chinese family].
Qi YH et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2010
Human corneal GlcNac 6-O-sulfotransferase and mouse intestinal GlcNac 6-O-sulfotransferase both produce keratan sulfate.
Akama TO et al.
The Journal of Biological Chemistry, 2001
Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene.
Akama TO et al.
Nature Genetics, 2000
Select a paper to view details