Lattice corneal dystrophy type 1 in a Canadian kindred is associated with the Arg124 → Cys mutation in the kerato-epithelin gene
Author:
Publisher
Elsevier BV
Subject
Ophthalmology
Reference5 articles.
1. The lattice type of familial corneal degeneration: a histopathologic study;Frayer;Arch Ophthalmol,1959
2. Genetic aspects of familial amyloidosis with corneal lattice dystrophy and cranial neuropathy;Meretoja;Clin Genet,1973
3. Three autosomal dominant corneal dystrophies map to chromosome 5q;Stone;Nat Genet,1994
4. Mapping of Reis-Bücklers' corneal dystrophy to chromosome 5q;Small;Am J Ophthalmol,1996
5. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies;Munier;Nat Genet,1997
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1. An Arg124Cys mutation in transforming growth factor β-induced gene associated with lattice corneal dystrophy type I in a Chinese pedigree;Indian Journal of Ophthalmology;2022
2. Cornea and Sclera;Ocular Pathology;2015
3. Development of Allele-Specific Gene-Silencing siRNAs for TGFBI Arg124Cys in Lattice Corneal Dystrophy Type I;Investigative Opthalmology & Visual Science;2014-02-18
4. In Vitro Amyloid Aggregate Forming Ability of TGFBI Mutants that Cause Corneal Dystrophies;Investigative Opthalmology & Visual Science;2012-08-27
5. Arg124Cys mutation of the TGFBI gene in a Chinese pedigree of Reis-Bucklers corneal dystrophy;INT J OPHTHALMOL-CHI;2011
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