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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Detaylı Bibliyografya
Yayımlandı:Eur J Hum Genet
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Publishing Group 2015
Konular:
Article
Online Erişim: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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