Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark-Reference-Cited by-同舟云学术

Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark

Published:2015-12-02 Issue:7 Volume:24 Page:1071-1079
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Astuti Galuh D N,Bertelsen Mette,Preising Markus N,Ajmal Muhammad,Lorenz Birgit,Faradz Sultana M H,Qamar Raheel,Collin Rob W J,Rosenberg Thomas,Cremers Frans P M

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2015241.pdf

Reference47 articles.

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2. Stone EM : Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture. Am J Ophthalmol 2007; 144: 791–811.

3. Leber T : Über Retinitis pigmentosa und angeborene Amaurose. Albrecht von Graefe's Arch Klin Exp Ophthalmol 1869; 15: 25.

4. den Hollander AI, Roepman R, Koenekoop RK, Cremers FP : Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog Retin Eye Res 2008; 27: 391–419.

5. Hamel CP : Gene discovery and prevalence in inherited retinal dystrophies. C R Biol 2014; 337: 160–166.

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