Article
Five novel RB1 gene mutations and genotype-phenotype correlations in Chinese children with retinoblastoma.
International ophthalmology - 1 Nov 2022
Li Luting, Li Haibo, Zhang Jing, Gan Hairun, Liu Ruihong, Hu Xinyan, Pang Pengfei, Li Bing
Abstract excerpt
PURPOSE: To identify the spectrum of RB1 gene mutations in 114 Chinese patients with retinoblastoma. METHODS: Genomic DNA was extracted from the peripheral blood of 114 Rb patients. Polymerase chain reactions (PCRs) followed by direct Sanger sequencing were used to screen for mutations in the RB1 gene, which contains 26 exons with flanking intronic sequences, except exon 15. Clinical data, including gender, age...
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