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Article

Phenotype-genotype correlations in patients with TGFBI-linked corneal dystrophies in Taiwan.

Molecular vision - 1 Jan 2012

Hou Yu-Chih, Wang I-Jong, Hsiao Cheng-Hsiang, Chen Wei-Li, Hu Fung-Rong

Abstract excerpt

PURPOSE: To determine the phenotype-genotype correlations in patients with corneal dystrophies associated with human transforming growth factor-β-induced (TGFBI) mutations at the National Taiwan University Hospital. METHODS: Twenty-five affected patients from 15 families with corneal dystrophies were recruited. They underwent slit-lamp biomicroscopy and visual acuity examinations. Genomic DNA was extracted from...

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Amino Acid Substitution
Corneal Dystrophies, Hereditary
DNA Mutational Analysis
Extracellular Matrix Proteins
Genetic Association Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation, Missense

Transforming Growth Factor beta

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Open in PubMed Open full text

Identifiers

PMID: 22355247
PMCID: PMC3283208

Genes

TGFBI

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

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