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Macular corneal dystrophy types I and II are caused by distinct mutations in the CHST6 gene in Iceland.

Molecular vision - 2 Oct 2006

Liu Ning-Pu, Smith Clayton F, Bowling Brandy L, Jonasson Fridbert, Klintworth Gordon K

Abstract excerpt

PURPOSE: To identify CHST6 mutations in five additional Icelandic cases of macular corneal dystrophy (MCD) type I and in four families with MCD type II from Iceland. METHODS: Genomic DNA was extracted from blood leukocytes of patients with MCD, their healthy family members, and from control individuals. CHST6 mutations were determined by PCR-sequencing. Immunophenotypes of MCD were determined by measuring...

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Identifiers

PMID: 17093400

Genes

CHST6

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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