Simultaneous identification of clinically relevant RB1 mutations and copy number alterations in aqueous humor of retinoblastoma eyes

BACKGROUND: Detection of germline RB1 mutations is critical for risk assessment of retinoblastoma (RB) patients. Assessment of somatic copy number alterations (SCNAs) is also critically important because of their prognostic significance. Herein we present a refined approach for the simultaneous iden...

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Publicado en:Ophthalmic Genet
Autores principales: Xu, Liya, Shen, Lishuang, Polski, Ashley, Prabakar, Rishvanth K., Shah, Rachana, Jubran, Rima, Kim, Jonathan W., Biegel, Jacklyn, Kuhn, Peter, Cobrinik, David, Hicks, James, Gai, Xiaowu, Berry, Jesse L.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2020
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7806277/
https://ncbi.nlm.nih.gov/pubmed/32799607
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/13816810.2020.1799417
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