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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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Clin Epigenetics
Prif Awduron: Quiñonez-Silva, Guadalupe, Dávalos-Salas, Mercedes, Recillas-Targa, Félix, Ostrosky-Wegman, Patricia, Aranda, Diego Arenas, Benítez-Bribiesca, Luis
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BioMed Central 2016
Pynciau:
Mynediad Ar-lein: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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