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TGFBI gene mutations in a Korean population with corneal dystrophy.

Molecular vision - 1 Jan 2012

Cho Kyong Jin, Mok Jee Won, Na Kyung Sun, Rho Chang Rae, Byun Yong Soo, Hwang Ho Sik, Hwang Kyu Yeon, Joo Choun-Ki

Abstract excerpt

PURPOSE: To investigate the clinical and genetic features of Korean patients with corneal dystrophies associated with mutations in the human transforming growth factor-β-induced (TGFBI) gene. METHODS: In this study, 387 subjects (71 families and 89 individuals - 268 patients having TGFBI corneal dystrophies and 119 normal relatives) were assessed. All subjects underwent a complete ophthalmologic evaluation,...

Topics

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Asian People
Corneal Dystrophies, Hereditary
Extracellular Matrix Proteins
Genes, Dominant
Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Republic of Korea

Transforming Growth Factor beta

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Open in PubMed Open full text

Identifiers

PMID: 22876129
PMCID: PMC3413419

Genes

TGFBI
TBCD

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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