“Monoallelic germline methylation and sequence variant in the promoter of the RB1 gene: a possible constitutive epimutation in hereditary retinoblastoma”

BACKGROUND: Retinoblastoma is a malignant tumor of the retina in children <5 years of age and occurs after two mutations in the RB1 gene. The first mutation (M1) is germinal and confers predisposition to the hereditary type, which is transmitted as an autosomal dominant highly penetrant trait, so...

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Detalles Bibliográficos
Autores principales: Quiñonez-Silva, Guadalupe, Dávalos-Salas, Mercedes, Recillas-Targa, Félix, Ostrosky-Wegman, Patricia, Aranda, Diego Arenas, Benítez-Bribiesca, Luis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4706693/
https://www.ncbi.nlm.nih.gov/pubmed/26753011
http://dx.doi.org/10.1186/s13148-015-0167-0

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