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Article

BIGH3 gene analysis in the differential diagnosis of corneal dystrophies.

Cornea - 1 Jan 2001

Kocak-Altintas A G, Kocak-Midillioglu I, Akarsu A N, Duman S

Abstract excerpt

PURPOSE: To identify the mutation in the keratoepithelin gene for proper diagnosis of granular corneal dystrophies. METHODS: Four generations of a single family with corneal dystrophy were analyzed. Fourteen family members were examined and 11 were found to be affected by clinical evaluation. Genetic DNA was extracted from proband's leukocytes for molecular analysis. Exons 4 and 12 of the BIGH3 gene were...

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Identifiers

PMID: 11189007
DOI: 10.1097/00003226-200101000-00013

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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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