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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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書誌詳細
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: BioMed Central 2012
主題:
オンライン・アクセス: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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