Leber Congenital Amaurosis: New Insights for the Healthcare Professional: 2011 Edition: ScholarlyPaper

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ScholarlyEditions, Jan 9, 2012 - Medical - 20 pages

Leber Congenital Amaurosis: New Insights for the Healthcare Professional: 2011 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Leber Congenital Amaurosis in a compact format.

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Contents

Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype
Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRL
Gene therapy for Lebers congenital amaurosis is safe and effective through 15 years after vector administration
Comprehensive SNPchip for retinitis pigmentosaLeber congenital amaurosis diagnosis new mutations and detection of mutational founder effects
Differential macular morphology in patients with RPE65 CEP290 GUCY2D and AIPL1related Leber congenital amaurosis
Visual acuity in patients with Lebers congenital amaurosis and early childhoodonset retinitis pigmentosa
Which Leber congenital amaurosis patients are eligible for gene therapy trials?
Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy
Recent breakthroughs in gene therapy for inherited retinal degeneration
The Leber congenital amaurosis protein AIPL1 is needed for the viability and functioning of cone photoreceptor cells
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