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We report on the genetic counseling and gene testing of patients with retinoblastoma who visited the National Cancer Center Hospital, Tokyo, from April 1997 through September 2003. During this period, 73 probands visited the clinic, and gene testing was performed in 51 individuals. Germline mutations of the RB1 gene were detected in 20 individuals (39%); the frequencies were 82% (9/11) in bilateral/familial...
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