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“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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Bibliografiske detaljer
Udgivet i:Clin Epigenetics
Main Authors: Quiñonez-Silva, Guadalupe, Dávalos-Salas, Mercedes, Recillas-Targa, Félix, Ostrosky-Wegman, Patricia, Aranda, Diego Arenas, Benítez-Bribiesca, Luis
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2016
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4706693/
https://ncbi.nlm.nih.gov/pubmed/26753011
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13148-015-0167-0
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