Article
Next-generation sequencing-based method shows increased mutation detection sensitivity in an Indian retinoblastoma cohort.
Molecular vision - 1 Jan 2016
Singh Jaya, Mishra Avshesh, Pandian Arunachalam Jayamuruga, Mallipatna Ashwin C, Khetan Vikas, Sripriya S, Kapoor Suman, Agarwal Smita, Sankaran Satish, Katragadda Shanmukh, Veeramachaneni Vamsi, Hariharan Ramesh, Subramanian Kalyanasundaram, Mannan Ashraf U
Abstract excerpt
PURPOSE: Retinoblastoma (Rb) is the most common primary intraocular cancer of childhood and one of the major causes of blindness in children. India has the highest number of patients with Rb in the world. Mutations in the RB1 gene are the primary cause of Rb, and heterogeneous mutations are distributed throughout the entire length of the gene. Therefore, genetic testing requires screening of the entire gene,...
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