Article
Diverse mutational spectrum in the 13q14 chromosomal region in a Brazilian cohort of retinoblastoma.
Experimental eye research - 1 Nov 2022
Mendonça Vanessa, Pereira Sena Priscila, Evangelista Dos Santos Anna Claudia, Rodrigues Bonvicino Cibele, Ashton-Prolla Patricia, Epelman Sidnei, Ferman Sima Esther, Lapunzina Pablo, Nevado Julián, Grigorovski Nathalia, Mattosinho Clarissa, Seuànez Hector, Regla Vargas Fernando
Abstract excerpt
Retinoblastoma is a rare childhood tumor caused by the inactivation of both copies of the RB1 gene. Early diagnosis and identification of heritable RB1 mutation carriers can improve the disease outcome and management via genetic counseling. We used the Multiplex Ligation-dependent Probe Amplification (MLPA) method to analyze the RB1 gene and flanking regions in blood samples from 159 retinoblastoma patients...
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