Article
Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma.
BMC cancer - 4 Nov 2015
Grotta Simona, D'Elia Gemma, Scavelli Rossana, Genovese Silvia, Surace Cecilia, Sirleto Pietro, Cozza Raffaele, Romanzo Antonino, De Ioris Maria Antonietta, Valente Paola, Tomaiuolo Anna Cristina, Lepri Francesca Romana, Franchin Tiziana, Ciocca Laura, Russo Serena, Locatelli Franco, Angioni Adriano
Abstract excerpt
BACKGROUND: Retinoblastoma (RB) is the most common malignant childhood tumor of the eye and results from inactivation of both alleles of the RB1 gene. Nowadays RB genetic diagnosis requires classical chromosome investigations, Multiplex Ligation-dependent Probe Amplification analysis (MLPA) and Sanger sequencing. Nevertheless, these techniques show some limitations. We report our experience on a cohort of RB...
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