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Article

Development of a Transgenic Mouse with R124H Human TGFBI Mutation Associated with Granular Corneal Dystrophy Type 2.

PloS one - 1 Jan 2015

Yamazoe Katsuya, Yoshida Satoru, Yasuda Miyuki, Hatou Shin, Inagaki Emi, Ogawa Yoko, Tsubota Kazuo, Shimmura Shigeto

Abstract excerpt

PURPOSE: To investigate the phenotype and predisposing factors of a granular corneal dystrophy type 2 transgenic mouse model. METHODS: Human TGFBI cDNA with R124H mutation was used to make a transgenic mouse expressing human protein (TGFBIR124H mouse). Reverse transcription PCR (RT-PCR) was performed to analyze TGFBIR124H expression. A total of 226 mice including 23 homozygotes, 106 heterozygotes and 97 wild-type...

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Identifiers

PMID: 26197481
DOI: 10.1371/journal.pone.0133397
PMCID: PMC4511001

Genes

TGFBI

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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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