Lattice corneal dystrophy type 1 in a Canadian kindred is associated with the Arg124 → Cys mutation in the kerato-epithelin gene

American Journal of Ophthalmology

Volumn 125, Issue 4, 1998, Pages 547-549

  Gupta, Sanjoy K ^a   Hodge, William G ^b   Damji, Karim F ^b   Guernsey, Duane L ^b   Neumann, Paul E ^b  

^a UNIVERSITY OF OTTAWA EYE INSTITUTE   (Canada)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID SUBSTITUTION; ARTICLE; BLINDNESS; CANADA; CONGENITAL CORNEA DYSTROPHY; CORNEA EPITHELIUM; FEMALE; HUMAN; MALE; PAIN; PRIORITY JOURNAL;

EID: 0032052195     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9394(99)80196-2     Document Type: Article

References (5)

1. 1. Frayer WC, Blodi FC. The lattice type of familial corneal degeneration: a histopathologic study. Arch Ophthalmol 1959;61:712-719.
2. 2. Meretoja J. Genetic aspects of familial amyloidosis with corneal lattice dystrophy and cranial neuropathy. Clin Genet. 1973;4:173-185.
3. 3. Stone EM, Mathers WD, Rosenwasser GOD, et al. Three autosomal dominant corneal dystrophies map to chromosome 5q. Nat Genet 1994;6:47-51.
4. 4. Small KW, Mullen L, Barletta J, et al. Mapping of Reis-Bücklers' corneal dystrophy to chromosome 5q. Am J Ophthalmol 1996;121:384-390.
5. 5. Munier FL, Korvatska E, Djemai A, et al. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nat Genet 1997;15:247-251.