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
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
[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
Immunophenotypes of macular corneal dystrophy in India and correlation with mutations in CHST6.
Sultana A et al.
Molecular Vision, 2009
Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy.
El-Ashry MF et al.
American Journal of Ophthalmology, 2005
Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy.
Aldave AJ et al.
American Journal of Ophthalmology, 2004
Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy.
El-Ashry MF et al.
Investigative Ophthalmology & Visual Science, 2002
Select a paper to view details