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...

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Detalles Bibliográficos
Autores principales: Tomar, Swati, Sethi, Raman, Sundar, Gangadhara, Quah, Thuan Chong, Quah, Boon Long, Lai, Poh San
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
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

Internet

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

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