Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36-Reference-Cited by-同舟云学术

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Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36

Published:2003-05 Issue:5 Volume:11 Page:420-423
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Keen T Jeffrey,Mohamed Moin D,McKibbin Martin,Rashid Yasmin,Jafri Hussain,Maumenee Irene H,Inglehearn Chris F

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/5200981.pdf

Reference20 articles.

1. Foxman SG, Heckenlively JR, Bateman JB, Wirtschafter JD : Classification of congenital and early onset retinitis pigmentosa. Arch Ophthalmol 1985; 103: 1502–1506.

2. Freund CL, Wang QL, Chen S et al: De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis. Nat Genet 1998; 18: 311–312.

3. Perrault I, Rozet JM, Calvas P et al: Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. Nat Genet 1996; 14: 461–464.

4. Marlhens F, Bareil C, Griffoin JM et al: Mutations in RPE65 cause Leber's congenital amaurosis. Nat Genet 1997; 17: 139–141.

5. Sohocki MM, Bowne SJ, Sullivan LS et al: Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. Nat Genet 2000; 24: 79–83.

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