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Article

Sequencing of the CHST6 gene in Czech macular corneal dystrophy patients supports the evidence of a founder mutation.

The British journal of ophthalmology - 1 Feb 2008

Liskova P, Veraitch B, Jirsova K, Filipec M, Neuwirth A, Ebenezer N D, Hysi P G, Hardcastle A J, Tuft S J, Bhattacharya S S

Abstract excerpt

AIMS: To characterise the role of the carbohydrate sulfotransferase gene (CHST6) in macular corneal dystrophy (MCD) in Czech patients. METHODS: The coding region of the CHST6 gene was directly sequenced in 10 affected and five unaffected members from eight apparently unrelated MCD families. The type of MCD was determined by enzyme-linked immunosorbent assay of antigenic keratan sulfate (KS) in serum and by...

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Share to Autoantibodies
Share to Base Sequence

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cornea

Share to Corneal Dystrophies, Hereditary

Share to Founder Effect

Share to Mutation, Missense

Share to Polymorphism, Single Nucleotide

Share to Sulfotransferases

Source

Identifiers

PMID: 17962390
DOI: 10.1136/bjo.2007.125252

Genes

CHST6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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