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Article

Composition and proteolytic processing of corneal deposits associated with mutations in the TGFBI gene.

Experimental eye research - 1 Mar 2012

Karring Henrik, Runager Kasper, Thøgersen Ida B, Klintworth Gordon K, Højrup Peter, Enghild Jan J

Abstract excerpt

Different types of granular corneal dystrophy (GCD) and lattice corneal dystrophy (LCD) are associated with mutations in the transforming growth factor beta induced gene (TGFBI). These dystrophies are characterized by the formation of non-amyloid granular deposits (GCDs) and amyloid (LCD type 1 and its variants) in the cornea. Typical corneal non-amyloid deposits from GCD type 2 (R124H), amyloid from a variant of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 22155582
DOI: 10.1016/j.exer.2011.11.014
PMCID: PMC3311163

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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