A new mutation (Leu569Arg) within Exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I

Author:

Warren John F,Abbott Richard L,Yoon Michael K,Crawford J.Brooks,Spencer William H,Margolis Todd P

Publisher

Elsevier BV

Subject

Ophthalmology

Reference27 articles.

1. Kauffman H. Epithelial and stromal dystrophies. In: Kauffman H, Barron BA, McDonald MB, editors. The cornea. Woburn, MA: Butterworth-Heineman Medical, 1997:432–436

2. Genetics of corneal dystrophies;Bron;Cornea,2000

3. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies;Munier;Nat Genet,1997

4. Two distinct kerato-epithelin mutations in Reis-Bücklers corneal dystrophy;Okada;Am J Ophthalmol,1998

5. Homogeneity of kerato-epithelin codon 124 mutations in Japanese patients with either of two types of corneal stromal dystrophy;Mashima;Am J Hum Genet,1997

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