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Article

Identification of three new mutations in the RB1 gene in patients with sporadic retinoblastoma in Colombia.

Biomedica : revista del Instituto Nacional de Salud - 1 Jan 2000

Serrano Martha Lucía, Yunis Juan José

Abstract excerpt

INTRODUCTION: Retinoblastoma is a childhood cancer of the retina originated by altered or null retinoblastoma protein (pRb) expression. Genetic alterations in both RB1 alleles in the retinal cells are required for the development of retinoblastoma. In the sporadic form, non-hereditary RB1 gene mutations take place in a single retinoblast cell, and are therefore only present in tumor DNA (somatic mutations)....

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Identifiers

PMID: 23715307
DOI: 10.1590/S0120-41572013000100007

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