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Article

Identification of A Novel TGFBI Gene Mutation (p.Serine524Cystine) Associated with Late Onset Recurrent Epithelial Erosions and Bowman Layer Opacities.

Ophthalmic genetics - 1 Dec 2020

Chen Angela C, Niruthisard Duangratn, Chung Doug D, Chuephanich Pichaya, Aldave Anthony J

Abstract excerpt

BACKGROUND: Most transforming growth factor beta-induced (TGFBI) corneal dystrophies are associated with a characteristic phenotype, clinical course, and a conserved mutation in the TGFBI gene. However, we report a novel TGFBI missense mutation associated with a late-onset, variant Bowman layer dystrophy. METHODS: Participants underwent slit-lamp examination and multimodal imaging. Polymerase chain reaction...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 32880217
DOI: 10.1080/13816810.2020.1814345

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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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