Article
Alterations in the RB1 gene in Pakistani patients with retinoblastoma using direct sequencing analysis.
Molecular vision - 1 Jan 2015
Kalsoom Saeeda, Wasim Muhammad, Afzal Sibtain, Shahzad Muhammad Saqib, Ramzan Shaiqa, Awan Ali Raza, Anjum Aftab Ahmed, Ramzan Khushnooda
Abstract excerpt
PURPOSE: Retinoblastoma (RB) is a rare intraocular malignant tumor of the developing retina with an estimated incidence of 1:20,000 live births in children under the age of 5 years. In addition to the abnormal whitish appearance of the pupil or leukocoria, strabismus has also been reported as a clinical symptom of the disease. RB1 is the first cloned tumor suppressor gene, and mutational inactivation of this gene...
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