Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations

Retinoblastoma (RB, OMIM#180200) is the most common intraocular tumour in infancy and early childhood. Constituent mutations in the RB1 gene predispose individuals to RB development. We performed a mutational screening of the RB1 gene in Italian patients affected by RB referred to the Medical Geneti...

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Veröffentlicht in:Journal of human genetics 2006-03, Vol.51 (3), p.209-216
Hauptverfasser: Sampieri, Katia, Hadjistilianou, Theodora, Mari, Francesca, Speciale, Caterina, Mencarelli, Maria Antonietta, Cetta, Francesco, Manoukian, Siranoush, Peissel, Bernard, Giachino, Daniela, Pasini, Barbara, Acquaviva, Antonio, Caporossi, Aldo, Frezzotti, Renato, Renieri, Alessandra, Bruttini, Mirella
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