RB1 screening of retinoblastoma patients in Sri Lanka using targeted next generation sequencing (NGS) and gene ratio analysis copy enumeration PCR (GRACE-PCR)

BACKGROUND: Retinoblastoma (RB) a tumour affecting those under 5 years, has a prevalence of 1 in 20,000, with around twenty new diagnoses per year in Sri Lanka. Unilateral and bilateral RB presents around 24 and 15 months respectively. Approximately 10% are familial. Systematic genetic testing for g...

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Detalles Bibliográficos
Autores principales: Kugalingam, Nirosha, De Silva, Deepthi, Abeysekera, Hiranya, Nanayakkara, Sriyani, Tirimanne, Shamala, Ranaweera, Dinali, Suravajhala, Prashanth, Chandrasekharan, Vishvanath
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10626775/
https://www.ncbi.nlm.nih.gov/pubmed/37932687
http://dx.doi.org/10.1186/s12920-023-01721-6

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