טוען...

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

BACKGROUND: 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 direct Sanger sequencing of known genes. However, these meth...

תיאור מלא

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מידע ביבליוגרפי
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
פורמט: Artigo
שפה:Inglês
יצא לאור: BioMed Central 2012
נושאים:
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC3352121/
https://ncbi.nlm.nih.gov/pubmed/22277662
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-7-8
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