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Article

A novel TGFBI phenotype with amyloid deposits and Arg124Leu mutation.

Ophthalmic research - 1 Jan 2011

Paliwal Preeti, Gupta Jaya, Tandon Radhika, Kashyap Seema, Sen Seema, Agarwal Aditi, Bakshi Ramendra, Sharma Arundhati

Abstract excerpt

AIM: To report a unique transforming-growth-factor-β-induced (TGFBI) gene phenotype with Arg124Leu mutation in an Indian family. METHODS: A family with 5 affected members presented to our hospital and were clinically diagnosed as suffering from Bowman layer dystrophy after examination. Peripheral blood samples were collected in EDTA from all for genomic DNA isolation. Keratoplasty was performed in 2 patients...

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Share to Corneal Dystrophies, Hereditary
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Plaque, Amyloid

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Source

Identifiers

PMID: 21447988
DOI: 10.1159/000324651

Genes

TGFBI
TACSTD2

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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