Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis

Proceedings of the National Academy of Sciences of the United States of America

Volumn 95, Issue 6, 1998, Pages 3088-3093

  Morimura, Hiroyuki ^a   Fishman, Gerald A ^c   Grover, Sandeep A ^c   Fulton, Anne B ^b   Berson, Eliot L ^a   Dryja, Thaddeus P ^a  

^a MASSACHUSETTS EYE AND EAR INFIRMARY   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c University of Illinois Chicago   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; ENDOPLASMIC RETICULUM; FEMALE; GENE MUTATION; GENETIC LINKAGE; HUMAN; LEBER CONGENITAL AMAUROSIS; MAJOR CLINICAL STUDY; MALE; PIGMENT EPITHELIUM; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FAMILY; RETINA DEGENERATION; RETINITIS PIGMENTOSA; TISSUE SPECIFICITY;

BLINDNESS; CARRIER PROTEINS; COHORT STUDIES; EXONS; EYE PROTEINS; FEMALE; GENES, RECESSIVE; HUMANS; INTRONS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; OPTIC ATROPHIES, HEREDITARY; PEDIGREE; POLYMORPHISM, GENETIC; PROTEINS; RETINITIS PIGMENTOSA;

EID: 0032539851     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.95.6.3088     Document Type: Article

References (12)

1. Dryja, T. P. (1997) Proc. Natl. Acad. Sci. USA 94, 12117-12121.
2. Hamel, C. P., Jenkins, N. A., Gilbert, D. J., Copeland, N. G. & Redmond, T. M. (1994) Genomics 20, 509-512.
3. Hamel, C. P., Tsilou, E., Harris, E., Pfeffer, B. A., Hooks, J. J., Detrick, B. & Redmond, T. M. (1993) J. Neurosci. Res. 34, 414-425.
4. Hamel, C. P., Tsilou, E., Pfeffer, B. A., Hooks, J. J., Detrick, B. & Redmond, T. M. (1993) J. Biol. Chem. 268, 15751-15757.
5. Nicoletti, A., Wong, D. J., Kawase, K., Gibson, L. H., Yang-Feng, T. L., Richards, J. E. & Thompson, D. A. (1995) Hum. Mol. Genet. 4, 641-649.
6. Marlhens, F., Bareil, C., Griffoin, J. M., Zrenner, E., Amalric, P., Eliaou, C., Liu, S. Y., Harris, E., Redmond, T. M., Arnaud, B., et al. (1997) Nat. Genet. 17, 139-141.
7. Gu, S. M., Thompson, D. A., Srikumari, C. R. S., Lorenz, B., Finckh, U., Nicoletti, A., Murthy, K. R., Rathmann, M., Kumaramanickavel, G., Denton, M. J., et al. (1997) Nat. Genet. 17, 194-197.
8. Berson, E. L., Rosen, J. B. & Simonoff, E. A. (1979) Am. J. Ophthalmol. 87, 460-468.
9. Orita, M., Iwahana, H., Kanazawa, H., Hayashi, K. & Sekiya, T. (1989) Proc. Natl. Acad. Sci. USA 86, 2766-2770.
10. Perrault, I., Rozet, J. M., Calvas, P., Gerber, S., Camuzat, A., Dollfus, H., Châtelin, S., Souied, E., Ghazi, I., Leowski, C., et al. (1996) Nat. Genet. 14, 461-464.
11. Dryja, T. P. & Li, T. (1995) Hum. Mol. Genet. 4, 1739-1743.
12. Franceschetti, A., Francois, J. & Babel, J. (1963) Chorioretinal Heredodegenerations (Charles C. Thomas, Springfield, IL).