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Article

Homozygous mutation (L527R) of TGFBI in an individual with lattice corneal dystrophy.

The British journal of ophthalmology - 1 Jun 2005

Yamada N, Chikama T-I, Morishige N, Yanai R, Nishida T, Inui M, Seki K

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Topics

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Share to Amyloidosis
Share to Corneal Dystrophies, Hereditary
Share to DNA Mutational Analysis
Share to TGFBI gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 15923518
DOI: 10.1136/bjo.2004.056168
PMCID: PMC1772697

Genes

TGFBI

Provenance

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Related research

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Research trail→

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Homozygous mutation (L527R) of TGFBI in an individual with lattice corneal dystrophy.PMID 15923518Read ↗

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

Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI geneSemantic proximity Read ↗

A late-onset unilateral variant of lattice corneal dystrophy not associated with a TGFBI mutation.Semantic proximity Read ↗

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

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

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

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

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

[Analysis of TGFBI gene mutation in a Chinese pedigree affected with lattice corneal dystrophy].Semantic proximity Read ↗

Genotype-Phenotype Correlation for TGFBI Corneal Dystrophies Identifies p.(G623D) as a Novel Cause of Epithelial Basement Membrane Dystrophy.Semantic proximity Read ↗

Clinical and genetic aspects of the TGFBI-associated corneal dystrophies.Semantic proximity Read ↗

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