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Article

A unique TGFBI protein in granular corneal dystrophy types 1 and 2.

Current eye research - 1 Nov 2012

Han Yu-Ping, Sim Austin J, Vora Smita C, Huang Andrew J W

Abstract excerpt

PURPOSE: Types 1 and 2 granular corneal dystrophies (GCD) are primarily associated with accumulation of the R555W and R124H mutant transforming growth factor β-inducible proteins (TGFBIp) in corneal stroma, respectively. However, specific components of TGFBIp responsible for granular deposits have not been delineated. This study was undertaken to identify the mutant TGFBIp components potentially responsible for...

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Topics

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Share to Corneal Dystrophies, Hereditary
Share to Corneal Stroma
Share to Electrophoresis, Polyacrylamide Gel

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Extracellular Matrix Proteins

Share to Immunoblotting

Share to Mutant Proteins

Share to Mutation, Missense

Share to Transforming Growth Factor beta

Source

Open in PubMed Open full text

Identifiers

PMID: 22746317
DOI: 10.3109/02713683.2012.700752
PMCID: PMC5552038

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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