The classic form of granular corneal dystrophy associated with R555W mutation in the BIGH3 gene is rare in Japanese patients

American Journal of Ophthalmology

Volumn 126, Issue 3, 1998, Pages 450-452

  Konishi, Minako ^a   Mashima, Yukihiko ^a   Yamada, Masakazu ^a   Kudoh, Jun ^a   Shimizu, Nobuyoshi ^a  

^a KEIO UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSFORMING GROWTH FACTOR BETA;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CORNEA DYSTROPHY; DISEASE ASSOCIATION; DNA SEQUENCE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN CELL; JAPAN; MULTIGENE FAMILY; PRIORITY JOURNAL; SLIT LAMP;

EID: 0032169435     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9394(98)00105-6     Document Type: Article

References (5)

1. Munier FL, Korzatska E, Djemaï A, et al. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nat Genet 1997;15:247-251.
2. Mannis MJ, De Sousa LB, Gross RH. The stromal dystrophies. In: Krachmer JH, Mannis MJ, Holland EJ, editors. Cornea: diagnosis and management. Volume II. St Louis: Mosby, 1997:1043-1062.
3. Møller HU. Inter-familial variability and intra-familial similarities of granular corneal dystrophy Groenouw type 1 with respect to biomicroscopical appearance and symptomatology. Acta Ophthalmol (Copenh) 1989;67:669-677.
4. Smolin G. Corneal dystrophies and degeneration. In: Smolin G, Thoft R, editors. The Cornea, 3rd edition. Boston: Little, Brown and Company, 1994:499-533.
5. 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 1997;61:1448-1450.