Article
Spectrum of RB1 mutations identified in 403 retinoblastoma patients.
Journal of medical genetics - 1 Mar 2014
Price Elizabeth A, Price Kelly, Kolkiewicz Kelly, Hack Simon, Reddy M Ashwin, Hungerford John L, Kingston Judith E, Onadim Zerrin
Abstract excerpt
BACKGROUND: Retinoblastoma (RB) is a malignant, childhood tumour of the developing retina that occurs with an estimated frequency of 1 in 20 000. Identification of oncogenic mutations in the RB1 gene aids in the clinical management of families with a heritable predisposition to RB. Here we present the spectrum of genetic and epigenetic changes identified in 194 tumours and 209 blood samples, from 403 unrelated RB...
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