Article
Uncommon RB1 somatic mutations in a unilateral retinoblastoma patient.
Medicina - 1 Jan 2015
Ottaviani Daniela, Alonso Cristina, Szijan Irene
Abstract excerpt
Retinoblastoma (RB) is the most common primary intraocular malignancy in children. Somatic inactivation of both alleles of the RB1 tumor suppressor gene in a developing retina is a crucial event in the initiation of tumorigenesis in most cases of isolated unilateral retinoblastoma. We analyzed the DNA from tumor tissue and peripheral blood of a unilateral retinoblastoma patient to determine the RB1 mutation...
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