Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis-Reference-Cited by-同舟云学术

Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis

Published:2001-08 Issue:8 Volume:9 Page:561-571
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Gerber Sylvie,Perrault Isabelle,Hanein Sylvain,Barbet Fabienne,Ducroq Dominique,Ghazi Imad,Martin-Coignard Dominique,Leowski Corinne,Homfray Tessa,Dufier Jean-Louis,Munnich Arnold,Kaplan Josseline,Rozet Jean-Michel

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/5200689.pdf

Reference21 articles.

1. Leber T . Leber Retinitis pigmentosa und angeborene Amaurose Albrecht von Graefes Arch Ophthal 1869 15: 1–25

2. Franceschetti A, Dieterle P . Importance diagnostique et prognostique de l'électrorétinogramme (ERG) dans les dégénérescences tapéto-rétiniennes avec rétrécissement du champ visuel et héméralopie Confin Neurol 1954 14: 184–186

3. Kaplan J, Bonneau D, Frezal J, Munnich A, Dufier JL . Clinical and genetic heterogeneity in retinitis pigmentosa Hum Genet 1990 85: 635–642

4. 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

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

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