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
Evaluation of the Genetic Variation Spectrum Related to Corneal Dystrophy in a Large Cohort.
Li W et al.
Frontiers in Cell and Developmental Biology, 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
Novel Mutations Associated With Various Types of Corneal Dystrophies in a Han Chinese Population.
Zhang J et al.
Frontiers in Genetics, 2019
CHST6 mutation screening and endoplasmatic reticulum stress in macular corneal dystrophy.
Wang L et al.
Oncotarget, 2017
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
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
Mutation analysis of CHST6 gene in Chinese patients with macular corneal dystrophy.
Liu Z et al.
Cornea, 2010
[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
[Analysis of gene mutation in Chinese patients with Reis-Bücklers corneal dystrophy].
Tian X et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2005
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