TY  - GEN
AU  - Rodriguez-Martin, Carlos
AU  - Cidre, Florencia
AU  - Fernández-Teijeiro, Ana
AU  - Gomez-Mariano, Gema Maria
AU  - de la Vega, Leticia
AU  - Ramos, Patricia
AU  - Zaballos, Ángel
AU  - Monzon-Fernandez, Sara
AU  - Alonso, Javier
PY  - 2016
DO  - 10.1038/jhg.2015.173
UR  - http://hdl.handle.net/20.500.12105/17263
AB  - Retinoblastoma (RB, MIM 180200) is the paradigm of hereditary cancer. Individuals harboring a constitutional mutation in one allele of the RB1 gene have a high predisposition to develop RB. Here, we present the first case of familial RB caused by a de...
LA  - eng
PB  - Nature Publishing Group
KW  - Alternative Splicing
KW  - Introns
KW  - Long Interspersed Nucleotide Elements
KW  - Mutagenesis, Insertional
KW  - Adult
KW  - Computational Biology
KW  - Exons
KW  - Genetic Loci
KW  - Humans
KW  - Infant
KW  - Male
KW  - Retinoblastoma
KW  - Retinoblastoma Protein
KW  - Sequence Analysis, DNA
TI  - Familial retinoblastoma due to intronic LINE-1 insertion causes aberrant and noncanonical mRNA splicing of the RB1 gene
TY  - research article
ER  -