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Article

Novel TGFBI mutation p.(Leu558Arg) in a lattice corneal dystrophy patient.

Ophthalmic genetics - 1 Dec 2016

Dudakova Lubica, Palos Michalis, Jirsova Katerina, Skalicka Pavlina, Dundr Pavel, Liskova Petra

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Topics

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Cornea
Corneal Dystrophies, Hereditary
DNA Mutational Analysis
Exons
Extracellular Matrix Proteins
TGFBI gene
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Transforming Growth Factor beta

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Identifiers

PMID: 27028151
DOI: 10.3109/13816810.2015.1126615

Genes

TGFBI

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

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Novel TGFBI mutation p.(Leu558Arg) in a lattice corneal dystrophy patient.PMID 27028151Read ↗

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A Korean patient with lattice corneal dystrophy type IV with Leu527Arg mutation in the TGFBI gene.Semantic proximity Read ↗

A novel missense TGFBI variant p.(Ser591Phe) in a Finnish family with variant lattice corneal dystrophy.Semantic proximity Read ↗

A novel mutation I522N within the TGFBI gene caused lattice corneal dystrophy I.Semantic proximity Read ↗

Novel and known mutations of TGFBI, their genotype-phenotype correlation and structural modeling in 3 Chinese families with lattice corneal dystrophy.Semantic proximity Read ↗

Variant lattice corneal dystrophy associated with compound heterozygous mutations in the TGFBI gene.Semantic proximity Read ↗

Mutation update:TGFBIpathogenic and likely pathogenic variants in corneal dystrophiesSemantic proximity Read ↗

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Clinical and Structural Characterization of a Novel TGFBI Mutation Linked to a Lattice Corneal Dystrophy Variant in a Greek Family.Semantic proximity Read ↗

A clinical and molecular-genetic analysis of Chinese patients with lattice corneal dystrophy and novel Thr538Pro mutation in the TGFBI (BIGH3) gene.Semantic proximity Read ↗

TGFBI mutation screening and genotype-phenotype correlation in north Indian patients with corneal dystrophies.Semantic proximity Read ↗

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