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Article

Protein Composition of TGFBI-R124C- and TGFBI-R555W-Associated Aggregates Suggests Multiple Mechanisms Leading to Lattice and Granular Corneal Dystrophy.

Investigative ophthalmology & visual science - 1 Jul 2015

Courtney David G, Poulsen Ebbe Toftgaard, Kennedy Susan, Moore Johnny E, Atkinson Sarah D, Maurizi Eleonora, Nesbit M Andrew, Moore C B Tara, Enghild Jan J

Abstract excerpt

PURPOSE: Transforming growth factor beta-induced (TGFBI)-related dystrophies constitute the most common heritable forms of corneal dystrophy worldwide. However, other than the underlying genotypes of these conditions, a limited knowledge exists of the exact pathomechanisms of these disorders. This study expands on our previous research investigating dystrophic stromal aggregates, with the aim of better...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26207300
DOI: 10.1167/iovs.15-16922

Genes

TGFBI

Variants

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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