Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy-Reference-Cited by-同舟云学术

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy

Published:2012-07-29 Issue:9 Volume:44 Page:975-977
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Perrault Isabelle,Hanein Sylvain,Zanlonghi Xavier,Serre Valérie,Nicouleau Michael,Defoort-Delhemmes Sabine,Delphin Nathalie,Fares-Taie Lucas,Gerber Sylvie,Xerri Olivia,Edelson Catherine,Goldenberg Alice,Duncombe Alice,Le Meur Gylène,Hamel Christian,Silva Eduardo,Nitschke Patrick,Calvas Patrick,Munnich Arnold,Roche Olivier,Dollfus Hélène,Kaplan Josseline,Rozet Jean-Michel

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.2357.pdf

Reference15 articles.

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2. Sergouniotis, P.I. et al. Am. J. Hum. Genet. 89, 183–190 (2011).

3. Estrada-Cuzcano, A. et al. Invest. Ophthalmol. Vis. Sci. 52, 834–839 (2011).

4. Zhou, T. et al. J. Biol. Chem. 277, 13148–13154 (2002).

5. Perrault, I. et al. Hum. Mutat. 28, 416 (2007).

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