Article
Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma.
American journal of human genetics - 1 Feb 2003
Richter Suzanne, Vandezande Kirk, Chen Ning, Zhang Katherine, Sutherland Joanne, Anderson Julie, Han Liping, Panton Rachel, Branco Patricia, Gallie Brenda
Abstract excerpt
Timely molecular diagnosis of RB1 mutations enables earlier treatment, lower risk, and better health outcomes for patients with retinoblastoma; empowers families to make informed family-planning decisions; and costs less than conventional surveillance. However, complexity has hindered clinical implementation of molecular diagnosis. The majority of RB1 mutations are unique and distributed throughout the RB1 gene,...
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