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    The RB1 Mutation Spectrum and Genetic Management Consultation in Pediatric Patients with Retinoblastoma in Beijing, China by Xie Y, Xu XL, Wei WB

    Published 2021-08-01
    “…Ying Xie,1,2 Xiao-Lin Xu,1 Wen-Bin Wei1 1Beijing Tongren Eye Center, Beijing Key Laboratory of Intraocular Tumor Diagnosis and Treatment, Beijing Ophthalmology and Visual Sciences Key Lab, Medical Artificial Intelligence Research and Verification Key Laboratory of the Ministry of Industry and Information Technology, Beijing Tongren Hospital, Capital Medical University, Beijing, 100730, People’s Republic of China; 2Department of Opthalmology, Shanxi Provincial People’s Hospital, Taiyuan, 030012, People’s Republic of ChinaCorrespondence: Wen-Bin WeiBeijing Tongren Eye Center, Beijing Key Laboratory of Intraocular Tumor Diagnosis and Treatment, Beijing Ophthalmology and Visual Sciences Key Lab, Medical Artificial Intelligence Research and Verification Key Laboratory of the Ministry of Industry and Information Technology, Beijing Tongren Hospital, Capital Medical University, No. 1 of Dong Jiao Min Lane, Dongcheng District, Beijing, 100730, People’s Republic of ChinaTel +86 10 5826 9516Fax +86 10 6512 5617Email weiwb1023@163.comObjective: The present study screened the structural mutations of the retinoblastoma (RB1) gene using gene capture and a preliminary exploration of the correlation between the genotypes and phenotypes.Methods: A total of 45 formalin-fixed paraffin-embedded (FFPE) tissue samples and 12 peripheral venous blood samples from patients with retinoblastoma (RB) confirmed by pathological examination at Beijing Tongren Hospital were collected between May 2019 and May 2021. …”
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