Current mutation discovery approaches in Retinitis Pigmentosa

Author:

Anasagasti Ander,Irigoyen Cristina,Barandika Olatz,López de Munain Adolfo,Ruiz-Ederra Javier

Publisher

Elsevier BV

Subject

Sensory Systems,Ophthalmology

Reference156 articles.

1. Comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning in the ABCA4 gene;Aguirre-Lamban;Investigative Ophthalmology and Visual Science,2010

2. Identification of large rearrangements of the PCDH15 gene by combined MLPA and a CGH: Large duplications are responsible for Usher syndrome;Aller;Investigative Ophthalmology and Visual Science,2010

3. AAV-mediated gene replacement, either alone or in combination with physical and pharmacological agents, results in partial and transient protection from photoreceptor degeneration associated with betaPDE deficiency;Allocca;Investigative Ophthalmology and Visual Science,2011

4. Implications of gene copy-number variation in health and diseases;Almal;Journal of Human Genetics,2012

5. Anasagasti, A., Cruchaga, C., Barandika, O., Irigoyen, C., Mendez, A., De Benedetti, G., et al. (2012). Combination of next generation sequencing and HRM analysis techniques in retinitis pigmentosa: A cost-effective approach for a complex disease. In 14th Vision research conference. Retina ciliopathies.

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