A Rapid and Sensitive Next-Generation Sequencing Method to Detect RB1 Mutations Improves Care for Retinoblastoma Patients and Their Families

Retinoblastoma is a childhood eye malignancy that can lead to the loss of vision, eye(s), and sometimes life. The tumors are initiated by inactivating mutations in both alleles of the tumor-suppressor gene, RB1, or, rarely, by MYCN amplification. Timely identification of a germline RB1 mutation in b...

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Detalhes bibliográficos
Publicado no:J Mol Diagn
Main Authors: Li, Wenhui L., Buckley, Jonathan, Sanchez-Lara, Pedro A., Maglinte, Dennis T., Viduetsky, Lucy, Tatarinova, Tatiana V., Aparicio, Jennifer G., Kim, Jonathan W., Au, Margaret, Ostrow, Dejerianne, Lee, Thomas C., O'Gorman, Maurice, Judkins, Alexander, Cobrinik, David, Triche, Timothy J.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Investigative Pathology 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5820122/
https://ncbi.nlm.nih.gov/pubmed/27155049
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jmoldx.2016.02.006
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