A Corneal Dystrophy Associated with Transforming Growth Factor β–Induced Gly623Asp Mutation

Kerato-epithelin mutations in four 5q31-linked corneal dystrophies

Francis L. Munier, Elena Korvatska, Assia Djemaï et al. · Nature Genetics · 1997 · 610 citations

Medicine, Genetics, Ophthalmology +14

Survey of patients with granular, lattice, avellino, and Reis-Bücklers corneal dystrophies for mutations in the BIGH3 and gelsolin genes.

Natalie A. Afshari, James E. Mullally, M A Afshari et al. · PubMed · 2001 · 132 citations

Medicine, Ophthalmology, Pathology +17

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

Elena Korvatska, Hugues Henry, Yukihiko Mashima et al. · Journal of Biological Chemistry · 2000 · 128 citations · Full text

Medicine, Molecular Biology, Molecular Genetics +16

Salzmann's Nodular Degeneration of the Cornea

Antti Vannas, Michael J. Hogan, Irmgard S. Wood · American Journal of Ophthalmology · 1975 · 86 citations

Medicine, Ophthalmology, Pathology +10

A Unique Corneal Dystrophy of Bowman’s Layer and Stroma Associated with the Gly623Asp Mutation in the Transforming Growth Factor β–Induced (TGFBI) Gene

Anthony J. Aldave, Sylvia A. Rayner, Jonathan King et al. · Ophthalmology · 2005 · 33 citations

Medicine, Genetics, Ophthalmology +17