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...

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Bibliografske podrobnosti
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: Artigo
Jezik:Inglês
Izdano: BioMed Central 2012
Teme:
Research
Online dostop: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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