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A Novel Mutation in the Promoter Region of the -Globin Gene: HBB: c.-127G > C
(Taylor & Francis Ltd, 2016)
Novel -globin gene mutations are still occasionally being reported, especially when evaluating milder phenotypes. We report here a novel putative mutation in the promoter region of the -globin gene and assess its clinical ...
Effects of idiopathic erythrocytosis on the left ventricular diastolic functions and the spectrum of genetic mutations: A case control study
(Lippincott Williams & Wilkins, 2022)
Background: We have aimed at exposing left ventricular diastolic functions and the presence of known genetic mutations for familial erythrocytosis, in patients who exhibit idiopathic erythrocytosis. Methods: Sixty-four ...