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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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Eur J Hum Genet
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group 2015
Pynciau:
Mynediad Ar-lein: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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