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Article

Genetic implications of CHST6 gene mutations and their corneal microstructural changes in macular corneal dystrophy patients.

Molecular vision - 1 Jan 2024

Murugan Durga, Duvesh Roopam, Adsumilli Sindhura Devi, Prajna Namperumalsamy Venkatesh, Chermakani Prakash, Sundaresan Periasamy

Abstract excerpt

Purpose: To collectively investigate the carbohydrate sulfotransferase 6 (CHST6) mutation spectrum and corneal morphological alterations of macular corneal dystrophy (MCD) patients using in vivo confocal microscopy (IVCM), histochemistry, immunohistochemistry, and further ascertaining the immunophenotype using an enzyme-linked immunosorbent assay (ELISA). Methods: Sanger sequencing-based CHST6 gene screening was...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39959172
PMCID: PMC11829787

Genes

CHST6

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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