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Germline RB1 Mutation in Retinoblastoma Patients: Detection Methods and Implication in Tumor Focality

PURPOSE: The study aimed to generate a stepwise method to reduce the workload of full-scale RB1 sequencing for germline mutation screening in retinoblastoma (RB) patients. The implication of germline mutation in tumor focality was also determined in this study. METHODS: A stepwise method was created...

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Detalles Bibliográficos
Autores principales: Rojanaporn, Duangnate, Chitphuk, Sermsiri, Iemwimangsa, Nareenart, Chareonsirisuthigul, Takol, Saengwimol, Duangporn, Aroonroch, Rangsima, Anurathathapan, Usanarat, Hongeng, Suradej, Kaewkhaw, Rossukon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9527333/
https://www.ncbi.nlm.nih.gov/pubmed/36173648
http://dx.doi.org/10.1167/tvst.11.9.30