Article
Spectrum of RB1 mutations in argentine patients: 20-years experience in the molecular diagnosis of retinoblastoma.
Ophthalmic genetics - 1 Dec 2013
Ottaviani Daniela, Parma Diana, Giliberto Florencia, Ferrer Marcela, Fandino Adriana, Davila Maria Teresa, Chantada Guillermo, Szijan Irene
Abstract excerpt
BACKGROUND: Retinoblastoma is a hereditary cancer of childhood caused by mutations in the RB1 tumor suppressor gene. An early diagnosis is critical for survival and eye preservation, thus identification of RB1 mutations is important for unequivocal diagnosis of hereditary retinoblastoma and risk assessment in relatives. METHODS: We studied 144 families for 20 years, performing methodological changes to improve...
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