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Article

Novel mutations in the CHST6 gene associated with macular corneal dystrophy in southern India.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Nov 2003

Warren John F, Aldave Anthony J, Srinivasan M, Thonar Eugene J, Kumar Abha B, Cevallos Vicky, Whitcher John P, Margolis Todd P

Abstract excerpt

OBJECTIVE: To further characterize the role of the carbohydrate sulfotransferase (CHST6) gene in macular corneal dystrophy (MCD) through identification of causative mutations in a cohort of affected patients from southern India. METHODS: Genomic DNA was extracted from buccal epithelium of 75 patients (51 families) with MCD, 33 unaffected relatives, and 48 healthy volunteers. The coding region of the CHST6 gene...

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Share to Corneal Dystrophies, Hereditary
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 14609920
DOI: 10.1001/archopht.121.11.1608

Genes

CHST6
GCG

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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