Articles with "ankyrin mutation" as a keyword



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A previously unrecognized Ankyrin‐1 mutation associated with Hereditary Spherocytosis in an Italian family

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Published in 2019 at "European Journal of Haematology"

DOI: 10.1111/ejh.13311

Abstract: Hereditary spherocytosis is the most common inherited hemolytic anemia characterized by the presence of spherical‐shaped erythrocytes on peripheral blood smear. The clinical manifestations of HS are highly variable, from severe forms to asymptomatic forms. HS… read more here.

Keywords: previously unrecognized; hereditary spherocytosis; ankyrin mutation; unrecognized ankyrin ... See more keywords