Associated Papers
Genetic implications of CHST6 gene mutations and their corneal microstructural changes in macular corneal dystrophy patients.
Murugan D et al.
Molecular Vision, 2024
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
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
Phenotype and genotype analysis in patients with macular corneal dystrophy.
Nowinska AK et al.
The British Journal of Ophthalmology, 2014
A case of Korean patient with macular corneal dystrophy associated with novel mutation in the CHST6 gene.
Lee YK et al.
Korean Journal of Ophthalmology : Kjo, 2013
[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
Sequencing of the CHST6 gene in Czech macular corneal dystrophy patients supports the evidence of a founder mutation.
Liskova P et al.
The British Journal of Ophthalmology, 2008
Novel mutations in the CHST6 gene associated with macular corneal dystrophy in southern India.
Warren JF et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2003
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