Lattice corneal dystrophy type I without typical lattice lines: role of mutational analysis
Author:
Publisher
Elsevier BV
Subject
Ophthalmology
Reference5 articles.
1. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies;Munier;Nat Genet,1997
2. An analysis of BIGH3 mutations in patients with corneal dystrophies in the Kyushu district of Japan;Yoshida;Jpn J Ophthalmol,2002
3. Amyloid and non-amyloid forms of 5q31-linked corneal dystrophy resulting from kerato-epithelin mutations at Arg-124 are associated with abnormal turnover of the protein;Korvatska;J Biol Chem,2000
4. Lattice corneal dystrophy. An inherited variety of amyloidosis restricted to the cornea;Klintworth;Am J Pathol,1967
5. A 10-year review of penetrating keratoplasty;Inoue;Jpn J Ophthalmol,2000
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1. Analysis of a Homozygous TGFBI Variant in a Pakistani Family with Granular Corneal Dystrophy Type 2: Implications for Genotype-Phenotype Correlation and Inheritance Patterns;2023-03-27
2. Generation of mouse model of TGFBI-R124C corneal dystrophy using CRISPR/Cas9-mediated homology-directed repair;Scientific Reports;2020-02-06
3. Transforming growth factor β induced mutation-associated phenotype in a Chinese family exhibiting lattice corneal dystrophy;Biomedical Reports;2017-08-30
4. Protein Composition of TGFBI-R124C- and TGFBI-R555W- Associated Aggregates Suggests Multiple Mechanisms Leading to Lattice and Granular Corneal Dystrophy;Investigative Opthalmology & Visual Science;2015-07-23
5. Mutation Analysis of the TGFBI Gene in Consecutive Korean Patients With Corneal Dystrophies;Annals of Laboratory Medicine;2015-05-01
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