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Article

The usefulness of buccal swabs for mutation screening in patients with suspected corneal dystrophies.

Ophthalmology - 1 Jul 2004

Aldave Anthony J, Yellore Vivek S, Self Cynthia A, Holsclaw Doug, Small Kent

Abstract excerpt

PURPOSE: To make ophthalmologists aware of the usefulness of buccal swabs for the collection of cells from which DNA may be extracted to be used in genetic screening of patients with known or suspected inherited ocular disorders, such as corneal dystrophies. DESIGN: Illustrative interventional case report. METHODS: Buccal epithelial swabs were collected from a 3-year-old boy with a presumed corneal dystrophy and...

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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: 15234146
DOI: 10.1016/j.ophtha.2003.10.033

Genes

TGFBI

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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