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Article

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

1 May 1999

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Share to Corneal surgery and disorders
Share to Ocular Surface and Contact Lens
Share to TGF-β signaling in diseases

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Identifiers

PMID: 10328397
DOI: 10.1016/s0161-6420(99)00539-4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophyPMID 10328397Read ↗

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 ↗

Lattice Corneal Dystrophy: a report of two cases in twin sisters due to 3 mutations (T1620C, C1416T, A1924G) in the TGFBI (BIGH3) gene.Semantic proximity Read ↗

Heterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesis.Semantic proximity Read ↗

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

A subset of patients with epithelial basement membrane corneal dystrophy have mutations inTGFBI/BIGH3Semantic proximity Read ↗

Genotype-phenotype correlations in Chinese patients with TGFBI gene-linked corneal dystrophy.Semantic proximity Read ↗

Genetics of corneal dystrophies: the evolving landscape.Semantic proximity Read ↗

Two mutations in the TGFBI (BIGH3) gene associated with lattice corneal dystrophy in an extensively studied family.Semantic proximity Read ↗

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

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

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

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