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Article

Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy.

American journal of ophthalmology - 1 Jan 2005

El-Ashry Mohamed F, Abd El-Aziz Mai M, Shalaby Osama, Wilkins Simon, Poopalasundaram Subathra, Cheetham Michael, Tuft Stephen J, Hardcastle Alison J, Bhattacharya Shomi S, Ebenezer Neil D

Abstract excerpt

PURPOSE: To identify the underlying mutations in two unrelated British families with macular corneal dystrophy (MCD) by screening the carbohydrate sulfotransferase (CHST6) gene. DESIGN: Case reports and results of DNA analysis. METHODS: Two subjects from two British families with MCD were studied. The genetic status of CHST6 was determined for all members of these MCD families. In addition, sulfated keratan...

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Share to Codon, Nonsense
Share to Corneal Dystrophies, Hereditary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Enzyme-Linked Immunosorbent Assay

Share to Mutation, Missense

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Share to Polymerase Chain Reaction

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Source

Identifiers

PMID: 15652851
DOI: 10.1016/j.ajo.2004.07.001

Genes

CHST6

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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