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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Vydáno v:Eur J Hum Genet
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2015
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On-line přístup: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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