Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene
Author:
Publisher
Elsevier BV
Subject
Ophthalmology
Reference33 articles.
1. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies;Munier;Nat Genet,1997
2. The molecular genetics of the corneal dystrophies–current status;Klintworth;Front Biosci,2003
3. Transforming growth factor beta induced protein accumulation in granular corneal dystrophy type III (Reis-Bucklers dystrophy);Hedegaard;Mol Vis,2003
4. Immunohistology of kerato-epithelin in corneal stromal dystrophies associated with R124 mutations of the BIGH3 gene;Konishi;Curr Eye Res,2000
5. 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
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2. Mutation analysis of the TGFBI gene in pedigrees of lattice corneal dystrophy in Eastern China;Ophthalmic Genetics;2022-04-28
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