Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism

In about 50% of sporadic cases of retinoblastoma, no constitutive RB1 mutations are detected by conventional methods. However, recent research suggests that, at least in some of these cases, there is somatic mosaicism with respect to RB1 normal and mutant alleles. The increased availability of next...

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Publicado en:Eur J Hum Genet
Main Authors: Amitrano, Sara, Marozza, Annabella, Somma, Serena, Imperatore, Valentina, Hadjistilianou, Theodora, De Francesco, Sonia, Toti, Paolo, Galimberti, Daniela, Meloni, Ilaria, Cetta, Francesco, Piu, Pietro, Di Marco, Chiara, Dosa, Laura, Lo Rizzo, Caterina, Carignani, Giulia, Mencarelli, Maria Antonietta, Mari, Francesca, Renieri, Alessandra, Ariani, Francesca
Formato: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group 2015
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4613478/
https://ncbi.nlm.nih.gov/pubmed/25712084
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.6
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