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Spectrum of RB1 Mutations in Argentine Patients: 20-years Experience in the Molecular Diagnosis of Retinoblastoma 1

✍ Scribed by Ottaviani, Daniela; Parma, Diana; Giliberto, Florencia; Ferrer, Marcela; Fandino, Adriana; Davila, Maria Teresa; Chantada, Guillermo; Szijan, Irene


Book ID
120247725
Publisher
Informa plc
Year
2013
Tongue
English
Weight
355 KB
Volume
34
Category
Article
ISSN
1381-6810

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Mutation analysis of retinoblastoma is considered important for genetic counseling purposes, as well as for understanding the molecular mechanisms leading to tumors with different degrees of penetrance or expressivity. In the course of an analysis of 43 hereditary retinoblastoma Spanish patients and