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
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
33816482 (PubMed )
Supplement: Data_Sheet_1.XLSX › Supplementary_Data_1
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
Phenotype and genotype analysis in patients with macular corneal dystrophy.
Nowinska AK et al.
The British Journal of Ophthalmology, 2014
Macular corneal dystrophy and associated corneal thinning.
Dudakova L et al.
Eye (london, England), 2014
Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects.
Dastani Z et al.
European Journal of Human Genetics : Ejhg, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII-
Macular corneal dystrophy: mutational spectrum in German patients, novel mutations and therapeutic options.
Gruenauer-Kloevekorn C et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2008
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 causing macular corneal dystrophy.
Abbruzzese C et al.
Clinical Genetics, 2004
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