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Article

Comparison of two phenotypically distinct lattice corneal dystrophies caused by mutations in the transforming growth factor beta induced (TGFBI) gene.

Proteomics. Clinical applications - 1 Apr 2014

Poulsen Ebbe Toftgaard, Runager Kasper, Risør Michael W, Dyrlund Thomas F, Scavenius Carsten, Karring Henrik, Praetorius Jeppe, Vorum Henrik, Otzen Daniel E, Klintworth Gordon K, Enghild Jan J

Abstract excerpt

PURPOSE: In this study, we investigated whether the phenotypic difference observed between two lattice corneal dystrophy type 1 (LCD type 1) cases caused by either a single A546D substitution or an A546D/P551Q double substitution in TGFBIp (transforming growth factor beta induced protein) can be ascribed to (i) a difference in the proteomes of corneal amyloid deposits, (ii) altered proteolysis of TGFBIp, or (iii)...

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Share to Amyloid
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Corneal Dystrophies, Hereditary

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Source

Open in PubMed Open full text

Identifiers

PMID: 24302499
DOI: 10.1002/prca.201300058
PMCID: PMC4163973

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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