Article
Next generation sequencing of RB1gene for the molecular diagnosis of ethnic minority with retinoblastoma in Yunnan.
BMC medical genetics - 23 Nov 2020
Zhang Zhen, Xiao Yi-Shuang, Shen Ru, Jiang Hong-Chao, Tan Li, Li Ren-Qiu, Yang Xiao-Hong, Gu Huai-Yu, He Wen-Ji, Ma Jing
Abstract excerpt
BACKGROUND: Retinoblastoma is a rare intraocular malignancy and typically initiated by inactivating biallelic mutations of RB1 gene. Each year, ~ 8000 children worldwide are diagnosed for retinoblastoma. In high-income countries, patient survival is over 95% while low-income countries is ~ 30%.If disease is diagnosed early and treated in centers specializing in retinoblastoma, the survival might exceed 95% and...
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