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

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作者： Katia,Sampieri ^[1] ; Theodora,Hadjistilianou ^[2] ; Francesca,Mari ^[1] ; Caterina,Speciale ^[1] ; Maria Antonietta,Mencarelli ^[1] ; Francesco,Cetta ^[3] ; Siranoush,Manoukian ^[4] ; Bernard,Peissel ^[4] ; Daniela,Giachino ^[5] ; Barbara,Pasini ^[6] ; Antonio,Acquaviva ^[7] ; Aldo,Caporossi ^[2] ; Renato,Frezzotti ^[8] ; Alessandra,Renieri ^[1] ; Mirella,Bruttini ^[9]

作者单位： Medical Genetics, Molecular Biology Department, University of Siena, Policlinico Le Scotte, viale Bracci 2, 53100, Siena, Italy. ^[1] Ophtalmological Science and Neuroscience, Siena General Hospital, Siena, Italy. ^[2] Surgery Department, University of Siena, Siena, Italy. ^[3] Medical Genetics, Experimental Oncology, Instituto Nazionale Tumori , Milan, Italy. ^[4] Medical Genetics SSD, ASO San Luigi Orbassano, Turin, Italy. ^[5] Genetics, Biology and Biochemistry Department, University of Torino, Turin, Italy. ^[6] Pediatrics Department, University of Siena, Siena, Italy. ^[7] University of Siena, Siena, Italy. ^[8] Medical Genetics, Molecular Biology Department, University of Siena, Policlinico Le Scotte, viale Bracci 2, 53100, Siena, Italy. bruttinim@unisi.it. ^[9]