Genetic high throughput screening in Retinitis Pigmentosa based on high resolution melting (HRM) analysis

Author:

Anasagasti Ander,Barandika Olatz,Irigoyen Cristina,Benitez Bruno A.,Cooper Breanna,Cruchaga Carlos,López de Munain Adolfo,Ruiz-Ederra Javier

Funder

Fundación ILUNDAIN de Estudios Neurológicos

Fundación Jesús de Gangoiti Barrera

Departamento de Industria, Basque Government

National Institute of Health Carlos III (Instituto de Salud Carlos III/ISCIII), Ministerio de Ciencia e Innovación

Instituto de Salud Carlos III, Ministerio de Ciencia e Innovación

Foundation of Patients of Retinitis Pigmentosa of Gipuzkoa (BEGISARE)

US-National Institutes of Health

Publisher

Elsevier BV

Subject

Cellular and Molecular Neuroscience,Sensory Systems,Ophthalmology

Reference53 articles.

1. Comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning in the ABCA4 gene;Aguirre-Lamban;Investig. Ophthalmol. Vis. Sci.,2010

2. Current mutation discovery approaches in Retinitis Pigmentosa;Anasagasti;Vis. Res.,2012

3. Practice Guidelines for the Interpretation and Reporting of Unclassified Variants (UVs) in Clinical Molecular Genetics;Bell,2007

4. Rhodopsin mutations in a Scottish retinitis pigmentosa population, including a novel splice site mutation in intron four;Bell;Br. J. Ophthalmol.,1994

5. Genotyping microarray: mutation screening in Spanish families with autosomal dominant Retinitis Pigmentosa;Blanco-Kelly;Mol. Vis.,2012

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