Five novel RB1 gene mutations and genotype–phenotype correlations in Chinese children with retinoblastoma

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 ge...

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Detalles Bibliográficos
Autores principales: Li, Luting, Li, Haibo, Zhang, Jing, Gan, Hairun, Liu, Ruihong, Hu, Xinyan, Pang, Pengfei, Li, Bing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2022
Materias:
Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9587959/
https://www.ncbi.nlm.nih.gov/pubmed/35960463
http://dx.doi.org/10.1007/s10792-022-02341-2

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