Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis-Reference-Cited by-同舟云学术

Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis

Published:2000-01 Issue:1 Volume:24 Page:79-83
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Sohocki Melanie M.,Bowne Sara J.,Sullivan Lori S.,Blackshaw Seth,Cepko Constance L.,Payne Annette M.,Bhattacharya Shomi S.,Khaliq Shagufta,Qasim Mehdi S.,Birch David G.,Harrison Wilbur R.,Elder Frederick F.B.,Heckenlively John R.,Daiger Stephen P.

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng0100_79.pdf

Reference12 articles.

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2. Foxman, S.G., Heckenlively, J.R., Batemen, B.J. & Wirstschafter, J.D. Classification of congenital and early-onset retinitis pigmentosa. Arch. Ophthalmol. 103, 1502–1507 (1985).

3. Perrault, I., et al. Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. Nature Genet. 14, 461–464 (1996).

4. Marlhens, F., et al. Mutations in RPE65 cause Leber's congenital amaurosis. Nature Genet. 17, 139–141 (1997).

5. Freund, C.L., et al. De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis. Nature Genet. 18, 311–312 (1998).

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