IROme, a New High-Throughput Molecular Tool for the Diagnosis of Inherited Retinal Dystrophies

The molecular diagnosis of retinal dystrophies is difficult because of the very important number of genes implicated and is rarely helped by genotype-phenotype correlations. This prompted us to develop IROme, a custom designed in solution-based targeted exon capture assay (SeqCap EZ Choice library,...

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Detalles Bibliográficos
Autores principales: Schorderet, Daniel F., Iouranova, Alexandra, Favez, Tatiana, Tiab, Leila, Escher, Pascal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3591198/
https://www.ncbi.nlm.nih.gov/pubmed/23484092
http://dx.doi.org/10.1155/2013/198089

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3591198/
https://www.ncbi.nlm.nih.gov/pubmed/23484092
http://dx.doi.org/10.1155/2013/198089

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