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Article

Molecular analysis of the CHST6 gene in Korean patients with macular corneal dystrophy: Identification of three novel mutations.

Molecular vision - 1 Jan 2015

Park Shin Hae, Ahn Ye Jin, Chae Hyojin, Kim Yonggoo, Kim Man Soo, Kim Myungshin

Abstract excerpt

PURPOSE: To identify the underlying genetic defect in Korean patients with macular corneal dystrophy (MCD). METHODS: Genomic DNA was isolated from peripheral blood leukocytes of seven patients from six unrelated families with MCD (three men and four women). Polymerase chain reaction was performed for coding regions of the carbohydrate sulfotransferase (CHST6), gene followed by bidirectional sequencing. Targeted...

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Source

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Identifiers

PMID: 26604660
PMCID: PMC4626780

Genes

CHST6
TGFBI

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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