Leu518Pro mutation of the βig-h3 gene causes lattice corneal dystrophy type I

American Journal of Ophthalmology

Volumn 128, Issue 1, 1999, Pages 104-106

  Endo, Shinichiro ^a   Ha, Nguyen Thanh ^b   Fujiki, Keiko ^b   Hotta, Yoshihiro ^b   Nakayasu, Kiyoo ^b   Yamaguchi, Tatsuo ^c   Ishida, Nobuo ^a   Kanai, Atsushi ^b  

^a Ishida Eye Clinic   (Japan)

^b JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c ST LUKE'S INTERNATIONAL HOSPITAL   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CONGENITAL CORNEA DYSTROPHY; FEMALE; GENE MUTATION; HUMAN; MALE; PEDIGREE; PRIORITY JOURNAL;

EID: 0344242012     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9394(99)00053-7     Document Type: Article

References (5)

1. Munier F.L., Korvatska E., Djemaï A., et al. Kerato-epithelin mutations in four 5p31-linked corneal dystrophies. Nat Genet. 15:1997;247-251.
2. Mashima Y., Imamura Y., Konishi M., et al. Homogeneity of kerato-epithelin codon 124 mutations in Japanese patients with either of two types of corneal stromal dystrophy. Am J Hum Genet. 61:1997;1448-1450.
3. Yamamoto S., Okada M., Tsujikawa M., et al. A keratoepithelin (βig-h3) mutation in lattice corneal dystrophy type IIIA. Am J Hum Genet. 62:1998;719-722.
4. Hotta Y, Fujiki K, Ono K, et al. Arg124Cys mutation of the βig-h3 gene in a Japanese family with lattice corneal dystrophy type I. Jpn J Ophthalmol 1998. Forthcoming.
5. Fujiki K, Hotta Y, Nakayasu K, et al. A new L527R mutation of the βig-h3 gene in patients with lattice corneal dystrophy with deep stromal opacities. Hum Genet. Forthcoming.