Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

<p>Abstract</p> <p>Background</p> <p>Inherited retinal disorders are clinically and genetically heterogeneous with more than 150 gene defects accounting for the diversity of disease phenotypes. So far, mutation detection was mainly performed by APEX technology and direc...

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Bibliographic Details
Main Authors: Audo Isabelle, Bujakowska Kinga M, Léveillard Thierry, Mohand-Saïd Saddek, Lancelot Marie-Elise, Germain Aurore, Antonio Aline, Michiels Christelle, Saraiva Jean-Paul, Letexier Mélanie, Sahel José-Alain, Bhattacharya Shomi S, Zeitz Christina
Format: Article
Language:English
Published: BMC 2012-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
NGS
retinal disorders
diagnostic tool.
Online Access:http://www.ojrd.com/content/7/1/8

Internet

http://www.ojrd.com/content/7/1/8

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