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Article

Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy.

American journal of ophthalmology - 1 Mar 2004

Aldave Anthony J, Yellore Vivek S, Thonar Eugene J, Udar Nitin, Warren John F, Yoon Michael K, Cohen Elisabeth J, Rapuano Christopher J, Laibson Peter R, Margolis Todd P, Small Kent

Abstract excerpt

PURPOSE: To further characterize the mutations within the CHST6 gene responsible for causing macular corneal dystrophy in a cohort of affected patients from the United States. DESIGN: Experimental study. METHODS: Genomic DNA was extracted from buccal epithelium of 16 affected patients (14 families), 17 unaffected relatives, and 127 controls, followed by polymerase chain reaction amplification and direct...

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Share to Corneal Dystrophies, Hereditary
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Amplification

Share to Haplotypes

Share to Polymerase Chain Reaction

Share to Sequence Analysis, DNA

Share to Sulfotransferases

Share to United States

Source

Identifiers

PMID: 15013869
DOI: 10.1016/j.ajo.2003.09.036

Genes

CHST6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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