Article
Identification of 26 new constitutional RB1 gene mutations in Spanish, Colombian, and Cuban retinoblastoma patients.
Human mutation - 1 Jan 2005
Alonso Javier, Frayle Helena, Menéndez Ibis, López Andrés, García-Miguel Purificación, Abelairas José, Sarret Enric, Vendrell M Teresa, Navajas Aurora, Artigas Mercé, Indiano José M, Carbone Ana, Torrenteras Christian, Palacios Itziar, Pestaña Angel
Abstract excerpt
Constitutional mutations in the RB1 gene predispose to retinoblastoma development. Hence genetic screening of retinoblastoma patients and relatives is important for genetic counseling purposes. In addition, RB1 gene mutation studies may help decipher the molecular mechanisms leading to tumors with different degrees of penetrance or expressivity. In the course of genetically screening of 107 hereditary and...
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