Screening of RB1 gene mutations in Chinese patients with retinoblastoma and preliminary exploration of genotype–phenotype correlations

PURPOSE: Retinoblastoma (RB) sets the paradigm for hereditary cancer syndromes, for which medical care can change depending on the results of genetic testing. In this study, we screened constitutional mutations in the RB1 gene via a method combining DNA sequencing and multiplex ligation-dependent pr...

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Detalles Bibliográficos
Autores principales: He, Ming-yan, An, Yu, Gao, Yi-jin, Qian, Xiao-wen, Li, Gang, Qian, Jiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4000713/
https://www.ncbi.nlm.nih.gov/pubmed/24791139

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