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Article

A new L527R mutation of the βIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities

1 Sept 1998

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Share to Connective tissue disorders research
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 9799082
DOI: 10.1007/s004390050818

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A new L527R mutation of the βIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacitiesPMID 9799082Read ↗

Leu518Pro mutation of the βig-h3 gene causes lattice corneal dystrophy type ISemantic proximity Read ↗

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

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

R124C mutation of the betaIGH3 gene leads to remarkable phenotypic variability in a Greek four-generation family with lattice corneal dystrophy type 1.Semantic proximity Read ↗

Development of a DNA chip for the diagnosis of the most common corneal dystrophies caused by mutations in the betaigh3 gene.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 ↗

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

A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophySemantic proximity Read ↗

Retinitis pigmentosa associated with rhodopsin mutations: Correlation between phenotypic variability and molecular effects.Semantic proximity Read ↗

BIGH3 mutation spectrum in corneal dystrophies.Semantic proximity Read ↗

New and recurrent AAGAB mutations in punctate palmoplantar keratoderma.Semantic proximity Read ↗

An autosomal dominant granular corneal dystrophy family associated with R555W mutation in the BIGH3 gene.Semantic proximity Read ↗

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