Free Access
| Issue |
Med Sci (Paris)
Volume 29, Number 1, Janvier 2013
|
|
|---|---|---|
| Page(s) | 26 - 27 | |
| Section | Nouvelles | |
| DOI | https://doi.org/10.1051/medsci/2013291008 | |
| Published online | 25 January 2013 | |
- Hanein S, Perrault I, Gerber S, et al. Leber congenital amaurosis : comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. Hum Mutat 2004 ; 23 : 306–317. [CrossRef] [PubMed] [Google Scholar]
- Kaplan J. Leber congenital amaurosisi from darkness to spotlight. Ophthalmic Genet 2008 ; 29 : 92–98. [CrossRef] [PubMed] [Google Scholar]
- Perrault I, Hanein S, Kaplan J. L’amaurose congénitale de Leber : les rétinol-déshydrogénases au banc des accusés. Med Sci (Paris) 2004 ; 20 : 1066–1068. [CrossRef] [EDP Sciences] [PubMed] [Google Scholar]
- Perrault I, Hanein S, Zanlonghi X, et al. Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy. Nat Genet 2012 ; 44 : 975–977. [CrossRef] [PubMed] [Google Scholar]
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