Identification of a novel de novo ANK1 R1426* nonsense mutation in a Chinese family with hereditary spherocytosis by NGS
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DOI: 10.18632/oncotarget.18243
Abstract: Hereditary spherocytosis (HS) is an inherited heterogeneous hemolytic anemia, characterized by the presence of spherical-shaped erythrocytes on the peripheral blood smear, and the clinical manifestation ranges from asymptomatic to severely anemic, and transfusion-dependent patients. Mutations… read more here.
Keywords: hereditary spherocytosis; nonsense mutation; novel novo; novo ank1 ... See more keywords