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

• Asıl Yazarlar: Nirosha Kugalingam (Yazar), Deepthi De Silva (Yazar), Hiranya Abeysekera (Yazar), Sriyani Nanayakkara (Yazar), Shamala Tirimanne (Yazar), Dinali Ranaweera (Yazar), Prashanth Suravajhala (Yazar), Vishvanath Chandrasekharan (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: BMC, 2023-11-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

Abstract 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 testi...