Article
Ten novel RB1 gene mutations in patients with retinoblastoma.
Molecular vision - 19 Sept 2007
Abouzeid Hana, Munier Francis L, Thonney Francine, Schorderet Daniel F
Abstract excerpt
PURPOSE: To study phenotype-genotype correlations in 65 retinoblastoma patients, who were seen between March 2004 and January 2006 and to report undescribed retinoblastoma 1 (RB1) mutations identified in ten additional patients in whom mutations were detected before 2004. METHODS: Complete ophthalmic examinations were performed in all patients and their parents. DNA was extracted from peripheral blood leukocytes,...
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