De novo mutations in the CRX homeobox gene associated with leber congenital amaurosis

Nature Genetics

Volumn 18, Issue 4, 1998, Pages 311-312

  Freund, Carol L ^a   Wang, Qing Liang ^b   Chen, Shiming ^b   Muskat, Brenda L ^a   Wiles, Carmella D ^d   Sheffield, Val C ^d   Jacobson, Samuel G ^e   McLnnes, Roderick R ^a   Zack, Donald J ^b,c   Stone, Edwin M ^d  

^a HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^b Department of Ophthalmology ^*  (United States)

^c JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF IOWA   (United States)

^e UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CONE ROD HOMEOBOX PROTEIN; HOMEODOMAIN PROTEIN; TRANSACTIVATOR PROTEIN;

BLINDNESS; FAMILY HEALTH; GENE; GENETICS; HUMAN; LETTER; MUTATION; PATHOPHYSIOLOGY; PHYSIOLOGY;

BLINDNESS; FAMILY HEALTH; GENES; HOMEODOMAIN PROTEINS; HUMANS; MUTATION; TRANS-ACTIVATORS;

EID: 0032037626     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng0498-311     Document Type: Letter

References (16)

1. Leber, T. Graefes Arch. Klin. Ophthalmol. 15, 1-25 (1869).
2. Foxman, S.G., Heckenlively, J.R., Bateman, B. & Wirtschafter, J.D. Arch. Ophthalmol. 103, 1502-1506(1985).
3. Noble, K.G. & Carr, R.E. Arch. Ophthalmol. 96, 818-821 (1978).
4. Fulton, A.B., Hansen, R.M. & Mayer, L. Arch. Ophthalmol. 114, 698-703 (1996).
5. Heher, K.L., Traboulsi, E.I. & Maumenee, I.H. Ophthalmology 99, 241-245 (1992).
6. Perrault, I. et al. Nature Genet. 14, 461-463 (1996).
7. Gu, S.M. et al. Nature Genet. 17, 194-197 (1997).
8. Marlhens, F. et al. Nature Genet. 17, 139-141 (1997).
9. Freund, C.L. et al. Cell91, 543-553 (1997).
10. Swain, P.K. et al. Neuron 19, 1329-1336 (1997).
11. Furukawa, T., Morrow, E.M. & Cepko, C.L. Cell 91, 531-541 (1997).
12. Chen, S. et al. Neuron 19, 1017-1030 (1997).
13. Cooper, D.N., Krawczak, M. & Antonarakis, S.E. in The Metabolic and Molecular Bases of Inherited Disease (eds Scriver, C.R., Beaudet, A.L., Sly, W. & Valle, D.) 259-292 (McGraw Hill, New York, 1995).
14. Francois, J. Int. Ophthalmol. Clin. 8, 929-947 (1968).
15. Sorsby, A. & Williams, C.E. Brit. Med. J. 1, 293-297 (1960).
16. Elder, M.J. J. Pediatr. Ophthalmol. Strabismus 31, 38-40(1994).