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Article

Novel mutations in the CHST6 gene causing macular corneal dystrophy.

Clinical genetics - 1 Feb 2004

Abbruzzese C, Kuhn U, Molina F, Rama P, De Luca M

Abstract excerpt

Macular corneal dystrophy (MCD) is an autosomal recessive disease characterized by corneal opacities and caused by mutations in a carbohydrate sulfotransferase gene, known as CHST6. MCD type I patients show missense mutations in the CHST6-coding region, and MCD type II patients show a large deletion and replacement in the upstream region of CHST6. The objective of this study was to identify the genetic defect in...

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Source

Identifiers

PMID: 14984470
DOI: 10.1111/j.0009-9163.2004.00191.x

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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