A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1

Retinoblastoma (Rb), the most common pediatric intraocular neoplasm, results from inactivation of both alleles of the RB1 tumor suppressor gene. The second allele is most commonly lost, as demonstrated by loss of heterozygosity studies. RB1 germline carriers usually develop bilateral tumors, but som...

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Vydáno v:PLoS Genet
Hlavní autoři: Eloy, Philippine, Dehainault, Catherine, Sefta, Meriem, Aerts, Isabelle, Doz, François, Cassoux, Nathalie, Lumbroso le Rouic, Livia, Stoppa-Lyonnet, Dominique, Radvanyi, François, Millot, Gaël A., Gauthier-Villars, Marion, Houdayer, Claude
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2016
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4771840/
https://ncbi.nlm.nih.gov/pubmed/26925970
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1005888
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