Mutation hot spots in 5q31-linked corneal dystrophies

American Journal of Human Genetics

Volumn 62, Issue 2, 1998, Pages 320-324

  Korvatska, E ^a   Munier, F L ^a,b   Djemai A ^a   Wang, M X ^c   Frueh, B ^d   Chiou, A G Y ^e   Uffer, S ^b   Ballestrazzi, E ^e   Braunstein, R E ^f   Forster, R K ^g   Culbertson, W W ^g   Boman, H ^h   Zografos, L ^b   Schorderet, D F ^a  

^a LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^b HÔPITAL OPHTALMIQUE JULES GONIN   (Switzerland)

^c VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF BERN   (Switzerland)

^e Clinica Oculistica   (Italy)

^f New York Presbyterian Hospital Columbia University Medical Center   (United States)

^g UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^h UNIVERSITY OF BERGEN   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 5Q; CLINICAL ARTICLE; CORNEA DISEASE; CORNEA DYSTROPHY; DNA SEQUENCE; GENE MUTATION; GENETIC POLYMORPHISM; GENOTYPE; HAPLOTYPE; HUMAN; MISSENSE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 17344365347     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301720     Document Type: Article

References (8)

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2. Hirano K, Klintworth GK, Zhan Q, Bennett K, Cintron C (1996) βig-h3 is synthesized by corneal epithelium and perhaps endothelium in Fuchs' dystrophic corneas. Curr Eye Res 15:965-972
3. Klintworth GK (1967) Lattice corneal dystrophy: an inherited variety of amyloidosis restricted to the cornea. Am J Pathol 50:371-399
4. Korvatska E, Munier FL, Zografos L, Ahmad F, Faggioni R, Dollivo-Beuret A, Uffer S, et al (1996) Delineation of a 1-cM region on distal 5q containing the locus for corneal dystrophies Groenouw type I and lattice type I and exclusion of the candidate genes SPARC and LOX. Eur J Hum Genet 4:214-218
5. Küchle M, Green WR, Völker HE, Barraquer J (1995) Reevaluation of corneal dystrophies of Bowman's layer and the anterior stroma (Reis-Bücklers and Thiel-Behnke types): a light and electron microscopic study of eight corneas and a review of the literature. Cornea 14:333-354
6. Munier FL, Korvatska E, Djemaï A, Le Paslier D, Zografos L, Pescia G, Schorderet DF (1997) Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nat Genet 15: 247-251
7. Ridgway AEA, Moller HU (1992) Genetics of granular dystrophy. Ophthalmology 99:1753
8. Rogers C, Cohen P, Lawless M (1993) Phototherapeutic keratectomy for Reis-Bücklers' corneal dystrophy. Aust N Z J Ophthalmol 21:247-250