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A novel splice acceptor site mutation of the alpha2-globin gene causing alpha-thalassemia
N I Noguera1, F A González, R A Dávoli
1Departamento Bioquímica Clínica, Facultad de Ciencias Bioquímicas y Farmacéuticas, Universidad Nacional de Rosario, Argentina.
Hemoglobin
|September 26, 2001
Abstract:
A novel nondeletional alpha-thalassemia mutation that affects RNA processing, changing the alpha2 IVS-II-142 splice acceptor consensus sequence from AG to AA, has been detected in an Argentinian patient with Hb H disease and her daughter.