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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Detaylı Bibliyografya
Yayımlandı:Ophthalmic Genet
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2020
Konular:
Article
Online Erişim: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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