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Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling
Retinoblastoma (RB) is a rare childhood malignant disorder caused by the biallelic inactivation of RB1 gene. Early diagnosis and identification of carriers of heritable RB1 mutations can improve disease outcome and management. In this study, mutational analysis was conducted on fifty-nine matched tu...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Public Library of Science
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5456385/ https://www.ncbi.nlm.nih.gov/pubmed/28575107 http://dx.doi.org/10.1371/journal.pone.0178776 |