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The RB1 Mutation Spectrum and Genetic Management Consultation in Pediatric Patients with Retinoblastoma in Beijing, China

OBJECTIVE: 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 ve...

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Detalles Bibliográficos
Autores principales: Xie, Ying, Xu, Xiao-Lin, Wei, Wen-Bin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8387327/
https://www.ncbi.nlm.nih.gov/pubmed/34456592
http://dx.doi.org/10.2147/RMHP.S322373