Article
Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations.
Journal of human genetics - 1 Jan 2006
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
Abstract excerpt
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 Genetics of the University of Siena. In 35 unrelated patients, we identified germline RB1 mutations in 6 out of 9 familial...
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