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Targeted next generation sequencing of RB1 gene for the molecular diagnosis of Retinoblastoma

BACKGROUND: The spectrum of RB1gene mutations in Retinoblastoma (RB) patients and the necessity of multiple traditional methods for complete variant analysis make the molecular diagnosis a cumbersome, labor-intensive and time-consuming process. Here, we have used targeted next generation sequencing...

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Detalles Bibliográficos
Autores principales: Devarajan, Bharanidharan, Prakash, Logambiga, Kannan, Thirumalai Raj, Abraham, Aloysius A, Kim, Usha, Muthukkaruppan, Veerappan, Vanniarajan, Ayyasamy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4415345/
https://www.ncbi.nlm.nih.gov/pubmed/25928201
http://dx.doi.org/10.1186/s12885-015-1340-8